Phenylketonuria (PKU): Screening and Management (CBM 2000-4)

Prepared by
Karen Patrias, M.L.S., National Library of Medicine
Felix F. de la Cruz, M.D., M.P.H., National Institute of Child Health and Human Development

2000 September

U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
Public Health Service
National Institutes of Health

National Library of Medicine
Reference Section
8600 Rockville Pike
Bethesda, Maryland 20894

Series Note

Each bibliography in the Current Bibliographies in Medicine (CBM) series covers a distinct subject area of biomedicine and is intended to fulfill a current awareness function. Citations are usually derived from searching a variety of online databases. NLM databases utilized include MEDLINE®, BIOETHICSLINE®, HEALTHSTAR^TM, LocatorPlus® , POPLINE^TM, PubMed®, and TOXLINE®. The only criterion for the inclusion of a particular published work is its relevance to the topic being presented; the format, ownership, or location of the material is not considered.

Publications in the Current Bibliographies in Medicine series are available at no cost to anyone with Internet access through the Library's World Wide Web site at http://www.nlm.nih.gov/pubs/resources.html.

Comments and suggestions on this series may be addressed to:

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Current Bibliographies in Medicine
Reference Section
National Library of Medicine
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PDF Version of This CBM

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The PDF version of this CBM can be downloaded directly from http://www.nlm.nih.gov/pubs/cbm/pku.pdf.

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Sample Citations

Citations are formatted according to the rules established for Index Medicus®*. Sample journal and monograph citations appear below. For journal articles written in a foreign language, the English translation of the title is placed in brackets; for monographs, the title is given in the original language. In both cases the language of publication is shown by a three letter abbreviation appearing at the end of the citation.

Note also for journal articles that an availability statement follows many citations. This statement contains the Internet address for the citation in the NLM PubMed® retrieval system. The PubMed record includes an abstract for most articles and may also provide a link to the publisher's Internet site.

Journal Article:

Example:
DiLella AG, Woo SL. Molecular basis of phenylketonuria and its clinical applications. Mol Biol Med 1987 Aug;4(4):183-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2890077&
dopt=Abstract

Order, with separating punctuation:
Authors. Article Title. Abbreviated Journal Title Date;Volume(Issue):Pages. Availability

Monograph:

Example:
Demirkol M, Shin YS, editors. Diagnosis and treatment of inborn errors of metabolism. Istanbul (Turkey): Turkish Society for PKU, Istanbul Branch; 1996. 233 p.

Order, with separating punctuation:
Authors/Editors. Title. Edition. Place of Publication: Publisher; Date. Total No. of Pages.

* For details of the formats used for references, see the following publication:
Patrias, Karen. National Library of Medicine recommended formats for bibliographic citation. Bethesda (MD): The Library; 1991 Apr. Available from: NTIS, Springfield, VA; PB91-182030.

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Introduction

Phenylketonuria (PKU): Screening and Management

Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream.

All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Scientists are actively exploring nondietary treatments for PKU.

This bibliography was prepared in support of the National Institutes of Health (NIH) Consensus Development Conference titled Phenylketonuria (PKU): Screening and Management held in Bethesda, MD on October 1618, 2000. It includes citations to journal articles, books and book chapters, conference proceedings and conference papers, and dissertations in all languages published primarily from January 1980 through July 2000. Works of historical significance and other selected references from earlier years have also been included. Citations have been arranged by subject and then alphabetically by author within each subject. A citation may appear under more than one subject. For example, a citation discussing the economic aspects of screening for PKU would be found under both "Economics and Socioeconomics" and "Screening and Diagnosis."

The compilers wish to thank Ms. Twann Dailey of the National Library of Medicine for her assistance in the production of this bibliography.

This publication is not copyrighted and may be freely reproduced. However any reproductions of this bibliography, in whole or in part, must include all credits. If you wish to cite this bibliography, the correct format is:

Patrias, Karen; de la Cruz, Felix F., compilers. Phenylketonuria (PKU): screening and management [bibliography online]. Bethesda (MD): National Library of Medicine (US); 2000 Sep [insert cited year month day in brackets]. [insert no. of screens or lines in brackets]. (Current bibliographies in medicine; no. 2000-4). 3394 citations from January 1980 through July 2000, plus selected earlier citations. Available from: http://www.nlm.nih.gov/pubs/resources.html

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History and Classic Material

Acuff KL, Faden RR. A history of prenatal and newborn screening programs: lessons for the future. In: Faden R, Geller G, Powers M, editors. AIDS, women and the next generation. New York: Oxford University Press; 1991. p. 59-93.

Ambrus CM, Ambrus JL, Horvath C, Pedersen H, Sharma S, Kant C, Mirand E, Guthrie R, Paul T. Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes. Science 1978 Sep 1;201(4358):837-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=567372&dopt;=Abstract

Bartholome K, Lutz P. [Determination of phenylalanine hydroxylase in patients with phenylketonuria and hyperphenylalaninemia]. Monatsschr Kinderheilkd 1976 May;124(5):421-2. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=934137&dopt;=Abstract

Bessman SP. Historical perspective: tyrosine and maternal phenylketonuria, welcome news [editorial]. Am J Clin Nutr 1998 Mar;67(3):357-8. Comment on: Am J Clin Nutr 1998 Mar;67(3):473-6. Comment in: Am J Clin Nutr 1998 Mar;67(3):488; Am J Clin Nutr 1998 Dec;68(6):1304-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9497176&dopt;=Abstract

Bickel H. Dietary restriction in inborn errors of amino acid metabolism. Curr Concepts Nutr 1979;8:35-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=527358&dopt;=Abstract

Bickel H. [Early diagnosis of phenylketonuria]. Monatsschr Kinderheilkd 1966 Jan;114(1):23-5. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7213484&dopt;=Abstract

Bickel H. The first treatment of phenylketonuria. Eur J Pediatr 1996 Jul;155 Suppl 1:S2-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828598&dopt;=Abstract

Bickel H. Phenylalaninaemia or classical phenylketonuria (PKU)? Neuropadiatrie 1970 Apr;1(4):379-82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5538079&dopt;=Abstract

Bickel H. [Phenylketonuria. Yesterday, today and tomorrow]. Arch Fr Pediatr 1983;40 Suppl 1:207-13. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6349571&dopt;=Abstract

Bickel H. Recent advances in the early detection and treatment of inborn errors with brain damage. Neuropadiatrie 1969 Jun-Jul;1(1):1-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4942066&dopt;=Abstract

Bickel H, Bremer HJ. [On phenylketonuria. Carrying out of phenylalanine-low diet]. Dtsch Med Wochenschr 1967 Apr 14;92(15):700-10. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5337203&dopt;=Abstract

Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953 Oct 17;2:812-3.

Bickel H, Ruter E, Nutzenadel W. [Early detection of hereditary enzyme defects of amino acid metabolism by means of microbiological inhibitor tests and thin layer chromatography]. Z Klin Chem Klin Biochem 1969 Mar;7(2):203-4. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4982481&dopt;=Abstract

Bush JW, Chen MM, Patrick DL. Health status index in cost effectiveness: analysis of PKU program. In: Berg RL, editor. Health status indexes. Proceedings of the Conference on a Health Status Index; 1972 Oct 1-4; Tucson, AZ. Chicago: Hospital Research and Educational Trust; 1973. p. 172-209.

Centerwall SA, Centerwall WR. The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics 2000 Jan;105(1 Pt 1):89-103. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10617710&dopt;=Abstract

Eggers C, Bickel H. [Pre-, peri- and postnatal causes of mental retardation]. Ergeb Inn Med Kinderheilkd 1974;34(0):155-205. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4278418&dopt;=Abstract

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, et al. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 1995 Jan;56(1):278-86. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7825588&dopt;=Abstract

Elgjo RF. Asbjorn Folling, his life and work. Prog Clin Biol Res 1985;177:79-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3892544&dopt;=Abstract

Folling A. [Phenylketonuria]. Tidsskr Nor Laegeforen 1967 Mar 1;87(5 Suppl):451-4. (Nor). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6046758&dopt;=Abstract

Folling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat. Hoppe Seylers Z Physiol Chem 1934;277:169-79. (Ger).

Folling I. The discovery of phenylketonuria. Acta Paediatr Suppl 1994 Dec;407:4-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766954&dopt;=Abstract

Gerrard JW. Phenylketonuria revisited. Clin Invest Med 1994 Oct;17(5):510-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7867255&dopt;=Abstract

Guthrie R. Blood screening for phenylketonuria [letter]. JAMA 1961 Nov 25;178(8):863.

Guthrie R. The introduction of newborn screening for phenylketonuria. A personal history. Eur J Pediatr 1996 Jul;155 Suppl 1:S4-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828599&dopt;=Abstract

Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963 Sep;32(3):338-43.

Guttler F. [Folling's disease: 50 years and still a catalyst of new discoveries in clinical medicine]. Nord Med 1984;99(3):78-81. (Dan). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6374615&dopt;=Abstract

Guttler F. Phenylketonuria: 50 years since Folling's discovery and still expanding our clinical and biochemical knowledge. Acta Paediatr Scand 1984 Nov;73(6):705-16. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6395623&dopt;=Abstract

Jervis GA. Studies on phenylpyruvic oligophrenia: the position of the metabolic error. J Biol Chem 1947 Aug;169(3):651-6.

Kaufman S. Experiencing classical enzymology in its prime. Protein Sci 1996 Aug;5(8):1742-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8844862&dopt;=Abstract

Kaufman S. The phenylalanine hydroxylating system from mammalian liver. Adv Enzymol 1971;35:245-319.

Koch J. Robert Guthrie--the PKU story: a crusade against mental retardation. Pasadena (CA): Hope Pub. House; c1997. 190 p.

Koch R, de la Cruz F. Historical aspects and overview of research on phenylketonuria. Ment Retard Dev Disabil Res Rev 1999;5(2):101-3.

Koch R, Williamson ML, Donnell GN, Guthrie R, Straus R, Coffelt W, Fish CH. A cooperative study of two methods for phenylalanine determination: McCaman-Robins fluorimetric and microbiologic inhibition methods. J Pediatr 1966 Jun;68(6):905-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5935077&dopt;=Abstract

Ledley FD. Somatic gene therapy for human disease: a problem of eugenics? Trends Genet 1987 Apr;3(4):112-5.

Lie SO. [Asbjorn Folling's disease. Reflections on a 50-year anniversary]. Tidsskr Nor Laegeforen 1984 Dec 10;104(34):2381-5. (Nor). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6395439&dopt;=Abstract

McDonald JD. The PKU mouse project: its history, potential and implications. Acta Paediatr Suppl 1994 Dec;407:122-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766947&dopt;=Abstract

Murphey WH, Patchen L, Guthrie R. Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. Biochem Genet 1972 Feb;6(1):51-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4199795&dopt;=Abstract

Nutrition classics, the Journal of Clinical Investigation, volume 34, 1955. Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. By Marvin D. Armstrong and Frank H. Tyler. Nutr Rev 1983 Jan;41(1):15-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6341892&dopt;=Abstract

Paul D. A double-edged sword. Nature 2000 Jun 1;405(6786):515. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10850693&dopt;=Abstract

Phenylketonuria in adolescence. International Symposium on the Advances in the Management of PKU. Brussels, Belgium, October 1986. Dedicated to Horst Bickel. Eur J Pediatr 1987;146 Suppl 1:A1-43. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3319634&dopt;=Abstract

Schmidt H, Bickel H. [Phenylketonuria]. Internist (Berl) 1976 Jul;17(7):354-61. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6237158&dopt;=Abstract

Schroeder SR. The PKU story - Guthrie,R. Am J Ment Retard 1999;104:392-3.

Scriver CC. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343. Pediatrics 1998 Jul;102(1 Pt 2):236-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9651440&dopt;=Abstract

Scriver CR. Whatever happened to PKU? Clin Biochem 1995 Apr;28(2):137-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7628072&dopt;=Abstract

Smith I, Lobascher ME, Stevenson JE, Wolff OH, Schmidt H, Grubel-Kaiser S, Bickel H. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 1978 Sep 9;2(6139):723-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=698696&dopt;=Abstract

Udenfriend S, Cooper JR. The enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1952 Feb;194(2):503-11.

Zschocke J, Mallory JP, Eiken HG, Nevin NC. Phenylketonuria and the peoples of Northern Ireland. Hum Genet 1997 Aug;100(2):189-94. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9254847&dopt;=Abstract

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Overviews and Reviews

Abadie V, Depondt E, Farriaux JP, Lepercq J, Lyonnet S, Maurin N, Ogier de Baulny H, Vidailhet M. [Pregnancy and the child of a mother with phenylketonuria]. Arch Pediatr 1996 May;3(5):489-6. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8763723&dopt;=Abstract

Acosta PB, Yannicelli S. Nutrition support of inherited disorders of amino acid metabolism: part 2. Top Clin Nutr 1995 Mar;10(2):48-72.

Addison GM, et al., editors. Practical developments in inherited metabolic disease: DNA analysis, phenylketonuria, and screening for congenital adrenal hyperplasia. Proceedings of the 23rd Annual Symposium of the Society for the Study of Inborn Errors of Metabolism; 1985 Sep; Liverpool, England. Boston: MTP Press; c1986. 335 p.

Allen RJ, Brunberg J, Schwartz E, Schaefer AM, Jackson G. MRI characterization of cerebral dysgenesis in maternal PKU. Acta Paediatr Suppl 1994 Dec;407:83-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766967&dopt;=Abstract

Alvarez Dominguez L, Campistol Plana J, Ribes Rubio A, Riverola de Vecina AT. [Phenylalanine metabolites in hyperphenylalaninemic children]. An Esp Pediatr 1992 May;36(5):371-4. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1616197&dopt;=Abstract

Ambulatory nutrition care: infants. J Am Diet Assoc 1989 Apr;89(4 Suppl):S15-6.

Ambulatory nutrition care: pregnant women. J Am Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

Annenkov GA. [Genetical heterogeneity of phenylketonuria]. Vopr Med Khim 1982 May-Jun;28(3):62-70. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7048735&dopt;=Abstract

Antel JP, Arnason BG. Genetic predisposition to environmental factors. Res Publ Assoc Res Nerv Ment Dis 1983;60:255-71. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6401865&dopt;=Abstract

Aoki K. [Disorders of amino acids]. Nippon Rinsho 1993 Jan;51 Suppl:332-9. (Jpn). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8459561&dopt;=Abstract

Armarego WL, Randles D, Waring P. Dihydropteridine reductase (DHPR), its cofactors, and its mode of action. Med Res Rev 1984 Jul-Sep;4(3):267-321. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6379341&dopt;=Abstract

Bailey SW, Boerth SR, Dillard SB, Ayling JE. The mechanism of cofactor regeneration during phenylalanine hydroxylation. Adv Exp Med Biol 1993;338:47-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8304161&dopt;=Abstract

Ball SP, Kenwrick SJ, Davies KE. The molecular genetics of human monogenic diseases. Biotechnol Genet Eng Rev 1985;3:275-309. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3004535&dopt;=Abstract

Bamforth FJ. Laboratory screening for genetic disorders and birth defects. Clin Biochem 1994 Oct;27(5):333-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7867213&dopt;=Abstract

Baranov VS. [Successes and prospects of molecular diagnosis of the most widespread inherited diseases]. Tsitol Genet 1992 Jul-Aug;26(4):64-72. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1440921&dopt;=Abstract

Barker HA. Amino acid degradation by anaerobic bacteria. Annu Rev Biochem 1981;50:23-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6791576&dopt;=Abstract

Batshaw ML. PKU and other inborn errors of metabolism. In: Batshaw ML, et al., editors. Children with disabilities. 4th ed. Baltimore (MD): Paul H. Brookes Publishing Co.; 1997. p. 389-404.

Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 1998 Jan-Feb;21(1):18-27. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9579281&dopt;=Abstract

Bequette BJ, Backwell FR, Crompton LA. Current concepts of amino acid and protein metabolism in the mammary gland of the lactating ruminant. J Dairy Sci 1998 Sep;81(9):2540-59. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9785247&dopt;=Abstract

Bessman SP. The justification theory: the essential nature of the non-essential amino acids. Nutr Rev 1979 Jul;37(7):209-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=384302&dopt;=Abstract

Bessman SP. Phenylketonuria--a genetic intrauterine nutritional deficiency. Nutr MD 1992 Jan;18(1):5.

Bick U, Ullrich K, Stober U, Moller H, Schuierer G, Ludolph AC, Oberwittler C, Weglage J, Wendel U. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 1993 Dec;152(12):1012-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8131802&dopt;=Abstract

Bickel H, Wachtel U, editors. Inherited diseases of amino acid metabolism: recent progress in the understanding, recognition, and management. New York: Thieme; 1985. 399 p. Based on the international symposium in Heidelberg in 1984.

Blau N, Niederwieser A. GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem 1985 Apr;23(4):169-76. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3891906&dopt;=Abstract

Blau N, Thony B, Spada M, Ponzone A. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr 1996 Jan-Mar;38(1):19-35. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8819618&dopt;=Abstract

Bodamer OA, Leonard JV, Tasker RC, Hoffmann GF, Halliday D. Protein turnover in critically ill children. Eur J Pediatr 1997 Aug;156 Suppl 1:S59-61. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9266217&dopt;=Abstract

Boyce RA. The dietetic implications of maternal phenylketonuria. Aust J Nutr Diet 1991 Sep;48(3):82-8.

Brenton DP. Cardiac defects in the children of mothers with high concentrations of plasma phenylalanine. Br Heart J 1990 Mar;63(3):143-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2183857&dopt;=Abstract

Campistol Plana J, Alvarez Dominguez L, Riverola de Veciana AT, Castillo Rivera P, Giner Soria P. [Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center]. An Esp Pediatr 1991 Jan;34(1):51-6. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2018258&dopt;=Abstract

Chestkov VV, Shishkin SS. [Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)]. Vopr Med Khim 1986 Jul-Aug;32(4):7-12. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3020793&dopt;=Abstract

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Ethics, Laws, and Policies

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Hard choices: genetic screening. Kent (OH): PTV Publications; 1981. 21 p. From a six-part television series on bioethics produced by KCTS/9, Seattle.

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Kirkman HN, Carroll CL, Moore EG, Matheson MS. Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method. Am J Hum Genet 1982 Sep;34(5):743-52. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7124729&dopt;=Abstract

Koch RK. Issues in newborn screening for phenylketonuria. Am Fam Physician 1999 Oct 1;60(5):1462-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10524490&dopt;=Abstract

Lappe M. The limits of genetic inquiry. Hastings Cent Rep 1987 Aug;17(4):5-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3478324&dopt;=Abstract

Laurence M, Harper PS, Harris R, Nevin NC, Roberts DF. Report of the delegation of clinical geneticists to China, Spring 1986. Biol Soc 1987 Jun;4(2):61-77.

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Economics and Socioeconomics

Ahrens D, Guntert B, Brand A. [Comparative presentation of current economic evaluation studies for phenylketonuria screening]. Gesundheitswesen 1999 Apr;61(4):190-6. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10408146&dopt;=Abstract

Alm J, Larsson A, Rosenqvist U. Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines. Med Decis Making 1982;2(1):33-45. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6820461&dopt;=Abstract

Ambulatory nutrition care: infants. J Am Diet Assoc 1989 Apr;89(4 Suppl):S15-6.

Ambulatory nutrition care: pregnant women. J Am Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

Antonozzi I, Dominici R, Andreoli M, Monaco F. Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. J Endocrinol Invest 1980 Oct-Dec;3(4):357-63. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7204885&dopt;=Abstract

Azen CG, Koch R, Friedman EG, Berlow S, Coldwell J, Krause W, Matalon R, McCabe E, O'Flynn M, Peterson R, et al. Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991 Jan;145(1):35-9. Comment in: Am J Dis Child 1991 Jan;145(1):33. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1985428&dopt;=Abstract

Barden HS, Kessel R, Schuett VE. The costs and benefits of screening for PKU in Wisconsin. Soc Biol 1984 Spring-Summer;31(1-2):1-17. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6443326&dopt;=Abstract

Brown MC, Guest JF. Economic impact of feeding a phenylalanine-restricted diet to adults with previously untreated phenylketonuria. J Intellect Disabil Res 1999 Feb;43 ( Pt 1):30-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10088966&dopt;=Abstract

California Department of Health Services, Genetic Disease Branch. Cost and availability of dietary treatment of phenylketonuria (PKU): report of a national survey. Berkeley (CA): The Branch; 1997. [76] leaves.

Clark BJ. After a positive Guthrie--what next? Dietary management for the child with phenylketonuria. Eur J Clin Nutr 1992 Jun;46 Suppl 1:S33-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1612049&dopt;=Abstract

Clow CL, Reade TM, Scriver CR. Management of hereditary metabolic disease. The role of allied health personnel. N Engl J Med 1971 Jun 10;284(23):1292-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5576439&dopt;=Abstract

Coleman EA. Commentary on Trends in Health Care: the Price of Prevention. ONS Nurs Scan Oncol 1995 Jul-Aug;4(4):7. Original article by Leutwyler K appears in Sci Am 1995;272(4):124-9.

Dagenais DL, Courville L, Dagenais MG. A cost-benefit analysis of the Quebec Network of Genetic Medicine. Soc Sci Med 1985;20(6):601-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3923626&dopt;=Abstract

Dhondt JL, Farriaux JP, Lebrun T, Sailly JC. [Cost/benefit study of the neonatal detection of phenylketonuria and hypothyroidism]. Pediatrie 1988;43(4):345-8. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3138627&dopt;=Abstract

Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis 1991;14(4):633-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1749228&dopt;=Abstract

Ebomoyi E. Family planning needs in Nigeria [letter]. World Health Forum 1984;5(1):40-1.

Farriaux JP. [Neonatal detection of phenylketonuria and hypothyroidism. Realities and perspectives]. An Esp Pediatr 1988 Sep;29 Suppl 32:272-9. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3150256&dopt;=Abstract

Farriaux JP, Dhondt JL. [Neonatal screening for phenylketonuria]. J Genet Hum 1981 Mar;29(1):3-11. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7334339&dopt;=Abstract

Fingerhut R, Stehn M, Kohlschutter A. Comparison of four different phenylalanine determination methods. Clin Chim Acta 1997 Aug 8;264(1):65-73. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9267704&dopt;=Abstract

Forsberg SA. Infant metabolic screening: a total quality management approach. Obst Gynecol Neonat Nurs 1997 May-Jun;26(3):257-61. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9170588&dopt;=Abstract

Friedman EG, Koch R, Azen C, Levy H, Hanley W, Matalon R, Rouse B, Trefz F, de la Cruz F. The International Collaborative Study on maternal phenylketonuria: organization, study design and description of the sample. Eur J Pediatr 1996 Jul;155 Suppl 1:S158-61. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828635&dopt;=Abstract

Gerasimova NS, Steklova IV, Tuuminen T. Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening. Clin Chem 1989 Oct;35(10):2112-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2791280&dopt;=Abstract

Graziado-Marques B, Kennedy B, Anderson K. Cost justifying computerization of diet analysis. J Am Diet Assoc 1991 Apr;91(4):469-70. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1901875&dopt;=Abstract

Griffiths PV, Demellweek C, Fay N, Robinson PH, Davidson DC. Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch Dis Child 2000 Mar;82(3):209-15. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10685922&dopt;=Abstract

Hisashige A. Health economic analysis of the neonatal screening program in Japan. Int J Technol Assess Health Care 1994 Summer;10(3):382-91. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8071001&dopt;=Abstract

Hitzeroth HW, Niehaus CE, Brill DC. Phenylketonuria in South Africa. A report on the status quo. S Afr Med J 1995 Jan;85(1):33-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7784915&dopt;=Abstract

Hoffman GL, Laessig RH, Hassemer DJ, Makowski ER. Dual-channel continuous-flow system for determination of phenylalanine and galactose: application to newborn screening. Clin Chem 1984 Feb;30(2):287-90. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6692537&dopt;=Abstract

Holton JB. Neonatal screening for biochemical disorders. Br J Hosp Med 1988 Apr;39(4):317-9, 322-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3164641&dopt;=Abstract

Holtzman NA. Pitfalls of newborn screening (with special attention to hypothyroidism): when will we ever learn? Birth Defects Orig Artic Ser 1983;19(5):111-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6411141&dopt;=Abstract

Holtzman NA, Faden R, Chwalow AJ, Horn SD. Effect of informed parental consent on mothers' knowledge of newborn screening. Pediatrics 1983 Dec;72(6):807-12. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6685863&dopt;=Abstract

Keffler S, Denmeade R, Green A. Neonatal screening for phenylketonuria: evaluation of an automated enzymatic method. Ann Clin Biochem 1994 Mar;31 ( Pt 2):134-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8154850&dopt;=Abstract

Koch R, Yusin M, Fishler K. Successful adjustment to society by adults with phenylketonuria. J Inherit Metab Dis 1985;8(4):209-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3939545&dopt;=Abstract

Liu SR, Zuo QH. Newborn screening for phenylketonuria in eleven districts. Chin Med J (Engl) 1986 Feb;99(2):113-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3093157&dopt;=Abstract

Luder AS, Greene CL. Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States. Am J Obstet Gynecol 1989 Nov;161(5):1102-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2686439&dopt;=Abstract

Moats RA, Koch R, Moseley K, Guldberg P, Guttler F, Boles RG, Nelson MD Jr. Brain phenylalanine concentration in the management of adults with phenylketonuria. J Inherit Metab Dis 2000 Feb;23(1):7-14. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10682303&dopt;=Abstract

Modell B. Biochemical neonatal screening: preconceptional and antenatal screening may be preferable in some cases [editorial]. BMJ 1990 Jun 30;300(6741):1667-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2202440&dopt;=Abstract

Novello AC. Inherited metabolic diseases: collaborating for the health of all children. Biochem Med Metab Biol 1993 Jun;49(3):277-84. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8347374&dopt;=Abstract

Osorio RV, Vilarinho L, Soares JP. [National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. Acta Med Port 1992 Mar;5(3):131-4. (Por). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1595380&dopt;=Abstract

Pettersen RD, Saugstad OD, Heyerdahl S, Motzfeldt K, Lie SO. [Screening of newborn infants in Norway for severe metabolic disease]. Tidsskr Nor Laegeforen 1995 Feb 20;115(5):584-7. (Nor). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7900109&dopt;=Abstract

Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, Nicholl J, Nicholson P, Tunaley JR, Virdi NK. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1997;1(7):1-202. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9483160&dopt;=Abstract

Reber M, Kazak AE, Himmelberg P. Phenylalanine control and family functioning in early-treated phenylketonuria. J Dev Behav Pediatr 1987 Dec;8(6):311-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3429669&dopt;=Abstract

Rey F, Abadie V, Plainguet F, Rey J. Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study. Eur J Pediatr 1996 Jul;155 Suppl 1:S39-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828607&dopt;=Abstract

Roesel RA, Blankenship PR, Hommes FA. HPLC assay of phenylalanine and tyrosine in blood spots on filter paper. Clin Chim Acta 1986 Apr 15;156(1):91-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3698321&dopt;=Abstract

Rottoli A, Gianni ML, Verduci E, Biondi ML, Fiori L, Giovannini M, Riva E. Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study. J Med Screen 1999;6(4):193-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10693064&dopt;=Abstract

Saudubray JM, Rey F, Ogier H, Abadie V, Farriaux JP, Ghisolfi J, Guibaud P, Rey J, Vidailhet M. Intellectual and school performances in early-treated classical PKU patients. The French collaborative study. Eur J Pediatr 1987;146 Suppl 1:A20-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3691573&dopt;=Abstract

Scheibenreiter S, Tiefenthaler M, Hinteregger V, Strobl W, Muhl A, Ewald A, Schadler M. Austrian report on longitudinal outcome in phenylketonuria. Eur J Pediatr 1996 Jul;155 Suppl 1:S45-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828608&dopt;=Abstract

Schmidt BJ, Diament AJ, Krynski S, Kamei ME, Rodrigues MM, Takata S. [Detection of inborn errors of metabolism in San Pablo, Brazil]. Bol Med Hosp Infant Mex 1981 Mar-Apr;38(2):217-29. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7259843&dopt;=Abstract

Schoos R, Verloes A, Bourguignon JP, Koulischer L. [Programs of systematic screening in neonatology. Pharmaco-economic aspects]. Rev Med Liege 1998 May;53(5):311-5. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9689890&dopt;=Abstract

Scriver CR. PKU and beyond: when do costs exceed benefits? Pediatrics 1974 Nov;54(5):616-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4453462&dopt;=Abstract

Scriver CR, Clow CL. Phenylketonuria: epitome of human biochemical genetics (second of two parts). N Engl J Med 1980 Dec 11;303(24):1394-400. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7432385&dopt;=Abstract

Sepe SJ, Levy HL, Mount FW. An evaluation of routine follow-up blood screening of infants for phenylketonuria. N Engl J Med 1979 Mar 15;300(11):606-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=33334&dopt;=Abstract

Sobra J. [Nutrition and metabolic diseases with a mass incidence]. Cas Lek Cesk 1990 Jul 20;129(29):897-901. (Cze). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2393894&dopt;=Abstract

St James PJ, Younger MD, Hamilton BD, Waisbren SE. Unplanned pregnancies in young women with diabetes. An analysis of psychosocial factors. Diabetes Care 1993 Dec;16(12):1572-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8299452&dopt;=Abstract

Steiner KC, Smith HA. Application of cost-benefit analysis to a PKU screening program. Inquiry 1973 Dec;10(4):34-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4272484&dopt;=Abstract

Thalhammer O, Scheibenreiter S, Knoll E, Wehle E, Schon R. [12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)]. Klin Padiatr 1980 Nov;192(6):589-98. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7194400&dopt;=Abstract

Tiwary CM. Neonatal screening for metabolic and endocrine diseases. Nurse Pract 1987 Sep;12(9):28-35, 38, 41. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3118277&dopt;=Abstract

Wallman CM. Lab values and diagnostics. Newborn genetic screening. Neonat Netw 1998 Apr;17(3):55-60, 22-4.

Wasser S, Theile H. [The interaction of biological and social factors on the effect of treatment in cases of phenylketonuria (author's transl)]. Padiatr Padol 1981;16(4):417-26. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7301389&dopt;=Abstract

Weglage J, Funders B, von Teeffelen-Heithoff A, Ullrich K. [Phenylketonuria: illness experience and coping mechanisms]. Z Kinder Jugendpsychiatr 1993 Sep;21(3):156-62. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8237123&dopt;=Abstract

Weglage J, Funders B, Wilken B, Schubert D, Schmidt E, Burgard P, Ullrich K. Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr 1992 Jul;151(7):522-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1396915&dopt;=Abstract

Weglage J, Funders B, Wilken B, Schubert D, Ullrich K. School performance and intellectual outcome in adolescents with phenylketonuria. Acta Paediatr 1993 Jun-Jul;82(6-7):582-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8338995&dopt;=Abstract

Weglage J, Grenzebach M, Pietsch M, Feldmann R, LinnenbankR, Denecke J, Koch HG. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. J Inherit Metab Dis 2000;23:487-96. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10947203&dopt;=Abstract

Weglage J, Ullrich K, Pietsch M, Funders B, Guttler F, Harms E. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria. Pediatr Res 1997 Sep;42(3):378-84. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9284280&dopt;=Abstract

White JE, Kronmal RA, Acosta PB. Excess weight among children with phenylketonuria. J Am Coll Nutr 1982;1(3):293-303. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7185860&dopt;=Abstract

Widaman KF. Process of analyses of data: Benefits and costs associated with collaborative studies. Ment Retard Dev Disabil Res Rev 1999;5(2):155-61.

Zelinskaia DI, Ladodo KS, Rybakova EP, Baikov AD. [Organization of dietetic assistance to children with phenylketonuria]. Vopr Pitan 1998;(2):12-4. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10224643&dopt;=Abstract

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Classification

Annenkov GA. [Phenylketonuria and hyperphenylalaninemia: clinico-genetic classification of 14 forms]. Zh Nevropatol Psikhiatr 1984;84(3):351-6. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6720175&dopt;=Abstract

Clemens PC, Schunemann MH, Plettner C, Gruttner R. [The phenylalanine stress test in the classification of patients with phenylketonuria]. Klin Padiatr 1989 May-Jun;201(3):163-6. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2739341&dopt;=Abstract

Dhondt JL, Largilliere C, Farriaux JP. [An attempt at classification of the hyperphenylalaninemias. Apropos of 62 patients]. Arch Fr Pediatr 1983;40 Suppl 1:243-5. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6882141&dopt;=Abstract

Donlon J. Variant forms of phenylketonuria. Ir Med J 1981 Jun;74(6):174, 176. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7287383&dopt;=Abstract

Farriaux JP, Dhont JL. [Hyperphenylalaninemia in 1983]. Rev Med Brux 1983 Apr;4(4):305-10. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6878937&dopt;=Abstract

Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Guttler F. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998 Jul;63(1):71-9. Published erratum appears in Am J Hum Genet 1998 Oct;63(4):1252-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9634518&dopt;=Abstract

Guttler F, Hansen G. Different phenotypes for phenylalanine hydroxylase deficiency. Ann Clin Biochem 1977 May;14(3):124-34. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=869488&dopt;=Abstract

Netley C, Hanley WB, Rudner HL. Phenylketonuria and its variants: observations on intellectual functioning. Can Med Assoc J 1984 Oct 1;131(7):751-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6478363&dopt;=Abstract

Perez B, Desviat LR, Ugarte M. Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. Hum Mutat 1995;5(2):188-90. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7749420&dopt;=Abstract

Wiens M, Koziol C, Batel R, Muller WE. Phenylalanine hydroxylase from the sponge Geodia cydonium: implication for allorecognition and evolution of aromatic amino acid hydroxylases. Dev Comp Immunol 1998 Sep-Dec;22(5-6):469-78. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9877430&dopt;=Abstract

Wood N, Tyfield L, Bidwell J. Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA. Hum Mutat 1993;2(2):131-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8318990&dopt;=Abstract

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Incidence, Prevalence, and Demographics

Alm J, Bodegard G, Larsson A, Nyberg G, Zetterstrom R. Children with inborn errors of phenylalanine metabolism: prognosis and phenylalanine tolerance. Acta Paediatr Scand 1986 Jul;75(4):619-25. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3751555&dopt;=Abstract

Alm J, Larsson A. Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979. Acta Paediatr Scand 1981 Sep;70(5):601-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7324907&dopt;=Abstract

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Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J Med Genet 1998 Apr;35(4):301-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9598724&dopt;=Abstract

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Romano V, Guldberg P, Guttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Cali F, Ceratto N, Anello G, Bosco P. PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. J Inherit Metab Dis 1996;19(1):15-24. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8830172&dopt;=Abstract

Romeo G, Menozzi P, Ferlini A, Prosperi L, Cerone R, Scalisi S, Romano C, Antonozzi I, Riva E, Piceni Sereni L, et al. Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clin Genet 1983 Nov;24(5):339-45. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6652943&dopt;=Abstract

Roth KS. Newborn metabolic screening: a search for nature's experiments. South Med J 1986 Jan;79(1):47-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3945834&dopt;=Abstract

Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver CR. Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations. Am J Hum Genet 1994 Aug;55(2):321-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7913581&dopt;=Abstract

Ruzickova S, Kozak L, Blazkova M, Kapras J, St'astna S. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria]. Cas Lek Cesk 1997 May 7;136(9):282-5. (Cze). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9264877&dopt;=Abstract

Saito T. An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. Genet Epidemiol 1988;5(6):421-32. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3209054&dopt;=Abstract

Sayle AE, Cooper GS, Savitz DA. Menstrual and reproductive history of mothers of galactosemic children. Fertil Steril 1996 Mar;65(3):534-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8774282&dopt;=Abstract

Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Cote D, Novak J, Teebi S, Nowacki PM. PAHdb: a locus-specific knowledgebase. Hum Mutat 2000;15(1):99-104. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10612829&dopt;=Abstract

Sengers RC. [Early detection of phenylketonuria in the Netherlands, 1977-1979. 2d report of the National Care Commission on Phenylketonuria]. Ned Tijdschr Geneeskd 1981 Dec 26;125(52):2135-40. (Dut). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7322235&dopt;=Abstract

Shintaku H. [The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. Nippon Rinsho 1992 Jul;50(7):1542-7. (Jpn). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1357201&dopt;=Abstract

Skorkowska-Zieleniewska J, Cabalska B, Golabek B, Symonowicz H, Nowakowska M. [Biochemical analysis of lead level in the hair of a mixed population. II. Comparison of the lead level in the hair of healthy children and in those with various diseases]. Rocz Panstw Zakl Hig 1984;35(4):337-40. (Pol). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6522999&dopt;=Abstract

Somers DG, Favreau L. Newborn screening for phenylketonuria: incidence and screening procedures in North America. Can J Public Health 1982 May-Jun;73(3):206-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7127244&dopt;=Abstract

Stevens MB, Rigilano JC, Wilson CC. State screening for metabolic disorders in newborns. Am Fam Physician 1988 Apr;37(4):223-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3358346&dopt;=Abstract

Subramanyam SB. Saudi aminoacidemias: a six-year study. Indian J Pediatr 1996 Sep-Oct;63(5):641-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10830032&dopt;=Abstract

Szabo L, Somogyi C, Mate M. Experience based on 800,000 newborn screening tests of the Budapest Phenylketonuria Centre. Acta Paediatr Hung 1985;26(2):113-25. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4041279&dopt;=Abstract

Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, et al. Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. Eur J Pediatr 1984 Aug;142(3):204-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6468444&dopt;=Abstract

Takarada Y, Kalanin J, Yamashita K, Ohtsuka N, Kagawa S, Matsuoka A. Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene [letter]. Clin Chem 1993 Nov;39(11 Pt 1):2354-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8222245&dopt;=Abstract

Takarada Y, Yamashita K, Kalanin J, Kagawa S, Matsuoka A. [Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics]. Rinsho Byori 1994 Nov;42(11):1165-71. (Jpn). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7844888&dopt;=Abstract

Teebi AS, Al-Awadi SA, Farag TI, Naguib KK, el-Khalifa MY. Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr 1987 Jan;146(1):59-60. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3582406&dopt;=Abstract

Therrell BL Jr, Brown LO, Dziuk PE, Peter WP Jr. The Texas Newborn Screening Program. Tex Med 1983 Feb;79(2):44-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6836536&dopt;=Abstract

Tillotson SL, Costello PM, Smith I. No reduction in birth weight in phenylketonuria. Eur J Pediatr 1995 Oct;154(10):847-9. Comment in: Eur J Pediatr 1997 Feb;156(2):157. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8529686&dopt;=Abstract

Treacy E, Byck S, Clow C, Scriver CR. 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province. Eur J Hum Genet 1993;1(3):220-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7913864&dopt;=Abstract

Tyfield LA, Meredith AL, Osborn MJ, Harper PS. Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales. J Med Genet 1989 Aug;26(8):499-503. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2570158&dopt;=Abstract

Tyfield LA, Osborn MJ, Holton JB. Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. J Med Genet 1991 Apr;28(4):244-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1677425&dopt;=Abstract

Tyfield LA, Stephenson A, Bidwell JL, Wood NA, Cockburn F, Harvie A, Smith I. Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs. Acta Paediatr Suppl 1994 Dec;407:47-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766958&dopt;=Abstract

Uma SM, Jyothy A, Reddy PP, Reddi OS. Aminoacidopathies in Andhra Pradesh; report of a screening programme. J Inherit Metab Dis 1982;5(4):211-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6820443&dopt;=Abstract

Velazquez A, Bilbao G, Gonzalez-Trujillo JL, Hernandez D, Perez-Andrade ME, Vela M, Ciceron I, Loera-Luna A, Cederbaum S, Phoenix B. Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco. Hum Genet 1996 Jan;97(1):99-102. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8557271&dopt;=Abstract

Velazquez A, Loera-Luna A, Aguirre BE, Gamboa S, Vargas H, Robles C. [Neonatal screening for congenital hypothyroidism and phenylketonuria]. Salud Publica Mex 1994 May-Jun;36(3):249-56. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7940004&dopt;=Abstract

Velazquez A, Vela-Amieva M, Ciceron-Arellano I, Ibarra-Gonzalez I, Perez-Andrade ME, Olivares-Sandoval Z, Jimenez-Sanchez G. Diagnosis of inborn errors of metabolism. Arch Med Res 2000 Mar 4;31(2):145-50. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10880718&dopt;=Abstract

Verkerk PH. [20-year national screening for phenylketonuria in The Netherlands. National Guidance Commission PKU]. Ned Tijdschr Geneeskd 1995 Nov 11;139(45):2302-5. (Dut). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7501062&dopt;=Abstract

Verkerk PH, Vaandrager GJ, Sengers RC. [15 years of national screening for phenylketonuria in The Netherlands; 4th Report of the National Commission for Management of Phenylketonuria]. Ned Tijdschr Geneeskd 1990 Dec 29;134(52):2533-6. (Dut). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2270129&dopt;=Abstract

Verkerk PH, van Spronsen FJ, Smit GP, Cornel MC, Kuipers JR, Verloove-Vanhorick SP. Prevalence of congenital heart disease in patients with phenylketonuria. J Pediatr 1991 Aug;119(2):282-3. Comment in: J Pediatr 1992 Jul;121(1):163-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1861217&dopt;=Abstract

Viktorova TV, Murzabaeva SSh, Karunas AU, Magzhanov RV, Khusnutdinova EK. [Molecular genetic analysis of phenylketonuria in Bashkiria]. Genetika 1997 Jul;33(7):992-5. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9378295&dopt;=Abstract

Waisbren SE, Doherty LB, Bailey IV, Rohr FJ, Levy HL. The New England Maternal PKU Project: identification of at-risk women. Am J Public Health 1988 Jul;78(7):789-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3381953&dopt;=Abstract

Walker V, Clayton BE, Ersser RS, Francis DE, Lilly P, Seakins JW, Smith I, Whiteman PD. Hyperphenylalaninaemia of various types among three-quarters of a million neonates tested in a screening programme. Arch Dis Child 1981 Oct;56(10):759-64. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7305413&dopt;=Abstract

Wang T, Okano Y, Eisensmith RC, Harvey ML, Lo WH, Huang SZ, Zeng YT, Yuan LF, Furuyama JI, Oura T, et al. Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc Natl Acad Sci U S A 1991 Mar 15;88(6):2146-50. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2006152&dopt;=Abstract

Wang T, Okano Y, Eisensmith RC, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL. Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications. Genomics 1991 Jun;10(2):449-56. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2071149&dopt;=Abstract

Woolf LI. Phenylketonuria in Turkey, Ireland and west Scotland. J Inherit Metab Dis 1994;17(2):246-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7967483&dopt;=Abstract

Wuu KD, Hsiao KJ, Chen CH, Hsiao TS, Chang CY, Chu YK. Screening for inherited metabolic diseases and congenital hypothyroidism in 4,744 mentally retarded school children in Taiwan. Jinrui Idengaku Zasshi 1988 Mar;33(1):33-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3392841&dopt;=Abstract

Yadav G, Farag TI, al Awadi SA, Sam T, Marafie MJ, Bastaki L, el Khalifa MY, Kasrawi B, Wahba RA. Aminoacidopathies among institutionalised mentally retarded in Kuwait [letter]. Clin Genet 1992 Oct;42(4):212. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1424246&dopt;=Abstract

Yasuda N. Geographical variations in inborn errors of metabolism in Japan. Hum Hered 1984;34(1):1-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6735410&dopt;=Abstract

Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T. Frequencies of the most common mutations responsible for phenylketonuria in Poland. Mol Cell Probes 1994 Aug;8(4):323-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7870074&dopt;=Abstract

Zschocke J, Graham CA. A fluorescent multiplex ARMS method for rapid mutation analysis. Mol Cell Probes 1995 Dec;9(6):447-51. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8808316&dopt;=Abstract

Zschocke J, Graham CA, McKnight JJ, Nevin NC. The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers. Acta Paediatr Suppl 1994 Dec;407:41-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766955&dopt;=Abstract

Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC. Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia. Acta Paediatr Suppl 1994 Dec;407:37-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766952&dopt;=Abstract

Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC. Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis. Hum Mutat 1994;4(2):114-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7981714&dopt;=Abstract

Zygulska M, Eigel A, Aulehla-Scholz C, Pietrzyk JJ, Horst J. Molecular analysis of PKU haplotypes in the population of southern Poland. Hum Genet 1991 Jan;86(3):292-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1671770&dopt;=Abstract

Zygulska M, Eigel A, Pietrzyk JJ, Miny P, Horst J. A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population. Hum Mutat 1993;2(1):74-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8097423&dopt;=Abstract

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Screening and Diagnosis

Adelman CS. The constitutionality of mandatory genetic screening statutes. Case West Reserv Law Rev 1981 Summer;31(4):897-948.

Ades AE, Walker J, Jones R, Thompson S, Leonard JV, Smith I. Obstacles to timely neonatal screening in North Thames. J Med Screen 1998;5(4):183-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9934648&dopt;=Abstract

Afanas'eva NA, Bychkova AM, Livshits LA, Bariliak IR. [The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea]. Tsitol Genet 1998 Jan-Feb;32(1):8-14. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9695246&dopt;=Abstract

Aldis B, Hoffman G, Therrell BL Jr. Laboratory methods for phenylalanine analysis on newborn screening specimens. In: Therrell BL Jr, editor. Laboratory methods for neonatal screening. Washington: American Public Health Association; c1993. p. 47-75.

Allanson J, McInnes R, Bradley L, Tarby T, Naylor E, Nardella M. Combined transient and peripheral defects in tetrahydrobiopterin synthesis. J Pediatr 1991 Feb;118(2):261-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1993959&dopt;=Abstract

Allen KR, Degg TJ, Rushworth PA, Smith M, Henderson MJ. Measurement of phenylalanine and tyrosine in plasma by high-performance liquid chromatography using the inherent fluorescence of aromatic amino acids. Ann Clin Biochem 1999 Mar;36(Pt 2):207-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10370738&dopt;=Abstract

Alos T, Bel Y, Cabello ML, Catala JL, Dalmau J, Ferre J, Garcia AM, Ruiz-Vazquez P. Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin. J Inherit Metab Dis 1993;16(2):457-64. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8412006&dopt;=Abstract

Altland K, Kaempfer M, Forssbohm M, Werner W. Monitoring for changing mutation rates using blood samples submitted for PKU screening. Prog Clin Biol Res 1982;103 Pt A:277-87. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7163198&dopt;=Abstract

American Academy of Pediatrics, Committee on Genetics. New issues in newborn screening for phenylketonuria and congenital hypothyroidism. Pediatrics 1982 Jan;69(1):104-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7054742&dopt;=Abstract

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American Academy of Pediatrics, Committee on Genetics. Issues in newborn screening. Pediatrics 1992 Feb;89(2):345-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1530685&dopt;=Abstract

American Academy of Pediatrics, Committee on Genetics. Screening for congenital metabolic disorders in the newborn infant. Evanston (IL): American Academy of Pediatrics; 1977. Congenital deficiency of thyroid hormone and hyperphenylalaninemia; p. 389-404. (Pediatrics; vol. 60, no. 3, pt. 2).

Andrews LB, editor. Legal liability and quality assurance in newborn screening. Chicago: American Bar Foundation; 1985. 242 p.

Annenkov GA, Safronova EE, Gubernieva LM, Volkova NM. [Detection of phenylalanine hydroxylase activity in human leukocytes and fibroblasts]. Vopr Med Khim 1980 Nov-Dec;26(6):723-6. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7456402&dopt;=Abstract

Annenkov GA, Safronova EE, Rozovskii IS, Bakharev VA. [Possibility of the prenatal diagnosis of phenylketonuria]. Akush Ginekol (Mosk) 1981 Nov;(11):25-7. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7325315&dopt;=Abstract

Antonozzi I, Carducci C, Vestri L, Pontecorvi A, Moretti F. Rapid and sensitive method for high-performance liquid chromatographic analysis of pterins in biological fluids. J Chromatogr 1988 Dec 28;459:319-24. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3243907&dopt;=Abstract

Aoki K, Wada Y. Outcome of the patients detected by newborn screening in Japan. Acta Paediatr Jpn 1988 Aug;30(4):429-34. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3150232&dopt;=Abstract

Appleton RE, Baumer JH, Holton JB. A loophole in the phenylketonuria screening programme [letter]. Lancet 1984 Sep 29;2(8405):752. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6148500&dopt;=Abstract

Arai N, Narisawa K, Hayakawa H, Tada K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Pediatrics 1982 Sep;70(3):426-30. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7110817&dopt;=Abstract

Aulehla-Scholz C, Vorgerd M, Sautter E, Leupold D, Mahlmann R, Ullrich K, Olek K, Horst J. Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet 1988 Apr;78(4):353-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2896157&dopt;=Abstract

Bailey MK, Blacklidge L, Day CM, Garcia LS, Parks D, Street T. PKU testing and early newborn release. MLO Med Lab Observ 1994 Sep;26(9):63-4.

Bankier A. Syndrome quiz. Maternal phenylketonuria. Aust Fam Physician 1990 Oct;19(10):1595-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2248574&dopt;=Abstract

Barasnev J. [Enzyme activity and the character of metabolic changes in brain tissue in children with phenylketonuria and histidinemia]. Cesk Pediatr 1980;35(2):49-52. (Cze). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7371094&dopt;=Abstract

Barwell BE, Pollitt RJ. [Attitude of parents toward the prenatal diagnosis of phenylketonuria]. Arch Fr Pediatr 1987;44 Suppl 1:665-6. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3449010&dopt;=Abstract

Beck B, Brandt NJ, Christensen E, Niederwieser A, Pedersen PS. Diagnostic and therapeutic aspects of dihydrobiopterin deficiency. Acta Paediatr Scand 1983 May;72(3):449-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6410682&dopt;=Abstract

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Zammarchi E, Donati MA, Pasquini E, Ciani F, Lori S, Fonda C. Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency. J Child Neurol 1997 Feb;12(2):137-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9075022&dopt;=Abstract

Zamotrinskii AV, Jennings IG, Cotton RG, Chestkov VV. [Detection of phenylalanine hydroxylase protein in human platelets. Immunochemical detection]. Biokhimiia 1990 Apr;55(4):760-5. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2378916&dopt;=Abstract

Zeng YT. [Antenatal gene diagnosis of phenylketonuria]. Chung Hua I Hsueh Tsa Chih 1986 Aug;66(8):493-4. (Chi). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3096539&dopt;=Abstract

Zeng YT. [Prenatal diagnosis of phenylketonuria (with a report of 10 cases)]. Chung Hua I Hsueh Tsa Chih 1988 Feb;68(2):61-4. (Chi). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2900675&dopt;=Abstract

Zetterstrom R. Editorial comment on phenylketonuria [editorial]. Acta Paediatr 1995 Jul;84(7):716-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7549285&dopt;=Abstract

Zhou AQ. [Clinical and laboratory study on 36 cases of phenylketonuria]. Chung Hua I Hsueh Tsa Chih 1983 Mar;63(3):150-3. (Chi). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6409376&dopt;=Abstract

Ziyai F, Wong PW, Justice P, Michals K. Protein-induced hypoglycemia in a phenylketonuric patient. J Pediatr 1978 Apr;92(4):681-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=633040&dopt;=Abstract

Zschocke J, Graham CA, Carson DJ, Nevin NC. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet 1995 Dec;57(6):1311-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8533759&dopt;=Abstract

Zschocke J, Quak E, Knauer A, Fritz B, Aslan M, Hoffmann GF. Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J Inherit Metab Dis 1999 Aug;22(6):687-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10472529&dopt;=Abstract

Zwaan J. Eye findings in patients with phenylketonuria. Arch Ophthalmol 1983 Aug;101(8):1236-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6882253&dopt;=Abstract

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Isolation and Analysis

Adak S, Wang Q, Stuehr DJ. Molecular basis for hyperactivity in tryptophan 409 mutants of neuronal NO synthase. J Biol Chem 2000 Jun 9;275(23):17434-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10747960&dopt;=Abstract

Adam BW, Alexander JR, Smith SJ, Chace DH, Loeber JG, Elvers LH, Hannon WH. Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume, and paper matrix. Clin Chem 2000 Jan;46(1):126-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10620584&dopt;=Abstract

Ambrus CM, Horvath C, Kalghatgi K, Clowsley M, Huzella C, Warner R, Ambrus JL, Cooley CM, Mirand EA. Depletion of phenylalanine in the blood of phenylketonuric patients using a PAL-enzyme reactor. An in vitro study. Res Commun Chem Pathol Pharmacol 1982 Jul;37(1):105-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7122995&dopt;=Abstract

Ambrus CM, Sharma SD, Horvath C, Kalghatgi K, Anthone S, Ambrus JL, Cooley C, Mirand EA. In vivo safety of hollow fiber enzyme-reactors with immobilized phenylalanine ammonia-lyase in a large animal model for phenylketonuria. J Pharmacol Exp Ther 1983 Mar;224(3):598-602. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6681841&dopt;=Abstract

Antonozzi I, Carducci C, Vestri L, Manzari V, Dominici R. Plasma amino acid values and pancreatic beta-cell function in phenylketonuria. J Inherit Metab Dis 1987;10(1):66-72. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3106718&dopt;=Abstract

Antoshechkin AG, Tatur VYu, Maximova LA. Discovery of methoxyacetylcarbamide in the urine of normal adults and phenylketonuric children. Clin Chim Acta 1988 Oct 31;177(3):239-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3233771&dopt;=Abstract

Arakawa H, Nakashiro S, Tsuji A, Maeda M. Analysis of polymerase chain reaction products by high-performance liquid chromatography with fluorimetric detection and its application to DNA diagnosis. J Chromatogr B Biomed Sci Appl 1998 Sep 25;716(1-2):119-28. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9824224&dopt;=Abstract

Atherton ND. HPLC measurement of phenylalanine by direct injection of plasma onto an internal-surface reversed-phase silica support. Clin Chem 1989 Jun;35(6):975-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2731370&dopt;=Abstract

Atherton ND, Green A. HPLC measurement of phenylalanine in plasma. Clin Chem 1988 Nov;34(11):2241-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3180416&dopt;=Abstract

Bach FW, Nielsen JB, Buchholt J, Lou H, Guttler F. Correlation between cerebrospinal fluid phenylalanine and beta-endorphin in patients with phenylketonuria. Neurosci Lett 1991 Aug 5;129(1):131-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1922962&dopt;=Abstract

Barclay A, Walton O. Phenylketonuria: implications of initial serum phenylalanine levels on cognitive development. Psychol Rep 1988 Aug;63(1):135-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3212113&dopt;=Abstract

Bartholome K, Olek K, Trefz F. Compound heterozygotes in hyperphenylalaninaemia. Hum Genet 1984;65(4):405-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6693130&dopt;=Abstract

Bechara-Andere J, Mota de Avelar-Alchorne M, Schmidt BJ, Schwery-Michalany N. [Classic phenylketonuria: dermatological and histopathological aspects in 35 patients]. Bol Med Hosp Infant Mex 1988 Feb;45(2):73-8. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3358843&dopt;=Abstract

Berio A. [Monodimensional electrophoretic picture of the most frequent hyperaminoacidurias caused by disorders of the intermediate metabolism of aminoacids (pre-renal)]. Minerva Pediatr 1984 Sep 15;36(17):791-6. (Ita). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6521698&dopt;=Abstract

Berry HK, Bofinger MK, Hunt MM, Phillips PJ, Guilfoile MB. Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine. Pediatr Res 1982 Sep;16(9):751-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7133808&dopt;=Abstract

Berry HK, Brunner RL, Hunt MM, White PP. Valine, isoleucine, and leucine. A new treatment for phenylketonuria. Am J Dis Child 1990 May;144(5):539-43. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2184659&dopt;=Abstract

Blaskovics M, Giudici TA. A new variant of biopterin deficiency [letter]. N Engl J Med 1988 Dec 15;319(24):1611-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3200274&dopt;=Abstract

Blau K. Determination of phenylalanine in filter paper blood spots by a simplified automated fluorimetric method without dialysis. Clin Chim Acta 1983 Apr;129(2):197-200. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6189648&dopt;=Abstract

Blau N, Curtius AC, Kierat L, Leupold D, Kohne E. Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia [letter]. J Pediatr 1989 Oct;115(4):661-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2795366&dopt;=Abstract

Blitzer MG, Bailey-Wilson JE, Shapira E. Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading. Clin Chim Acta 1986 Dec 30;161(3):347-52. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3802540&dopt;=Abstract

Bliumina MG, Lebedev BV, Kopylova NV, Sitnichenko EI, Gerasimova NS. [Relationship between the severity of brain damage in phenylketonuria and the degree of hyperphenylalaninemia]. Zh Nevropatol Psikhiatr 1980;80(12):1778-81. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7223198&dopt;=Abstract

Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V. Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. Hum Mutat 1998;11(3):240-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9521426&dopt;=Abstract

Bourget L, Chang TM. Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model. Biochim Biophys Acta 1986 Oct 1;883(3):432-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3756210&dopt;=Abstract

Briard ML, Frezel J. [Coordinated case finding of phenylketonuria and hypothyroidism in France]. Soins 1980 Dec 5-20;25(23-24):25-7. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6910189&dopt;=Abstract

Brismar J, Aqeel A, Gascon G, Ozand P. Malignant hyperphenylalaninemia: CT and MR of the brain. AJNR Am J Neuroradiol 1990 Jan-Feb;11(1):135-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2105595&dopt;=Abstract

Brown ES. Paternal hyperphenylalaninemia. Pediatrics 1986 Aug;78(2):201-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3737296&dopt;=Abstract

Brown KJ, Vesey BV, Tannock GW, Bell EB, Lines DR, Elliott RB. The assay on a defined medium of the effects of beta-2-thienylalanine on the growth of anaerobic bacterial isolates from phenylketonuric patients. Med Microbiol Immunol (Berl) 1980 Feb;168(1):11-24. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7189815&dopt;=Abstract

Brusov OS, Lideman RR. [Nerve growth factor and the state of serotoninergic system in endogenous depression and mental retardation]. Vestn Ross Akad Med Nauk 1992;(8):16-21. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1282410&dopt;=Abstract

Buist NR, Tuerck J, Lis E, Penn R. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus [letter]. N Engl J Med 1984 Jul 5;311(1):52-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6727966&dopt;=Abstract

Cabalska B, Nowaczewska I, Duczynska N. Plasma amino acid pattern in phenylketonuric heterozygotes during pregnancy. Biochem Med 1982 Jun;27(3):269-77. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7115361&dopt;=Abstract

Calomme MR, Vanderpas JB, Francois B, Van Caillie-Bertrand M, Herchuelz A, Vanovervelt N, Van Hoorebeke C, Vanden Berghe DA. Thyroid function parameters during a selenium repletion/depletion study in phenylketonuric subjects. Experientia 1995 Dec 18;51(12):1208-15. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8536808&dopt;=Abstract

Carducci C, Moretti F, Birarelli M, Antonozzi I. Rapid and sensitive high-performance liquid chromatographic method for the analysis of tryptophan, tyrosine and phenylalanine in biological samples. J Chromatogr 1991 Aug 16;553(1-2):149-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1787149&dopt;=Abstract

Carlson HE, Hyman DB, Bauman C, Koch R. Prolactin responses to phenylalanine and tyrosine in phenylketonuria. Metabolism 1992 May;41(5):518-21. Comment in: Metabolism 1993 Apr;42(4):531-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1588831&dopt;=Abstract

Chang TM. Medical applications of artificial cells in transfusion, phenylketonuria, essential amino acid production, and liver support. Ann N Y Acad Sci 1988;542:507-14. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3228242&dopt;=Abstract

Charikova EV, Khalchitskii SE, Antoshechkin AG, Schwartz EI. Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region. Hum Hered 1993 Jul-Aug;43(4):244-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8344669&dopt;=Abstract

Chestkov VV, Laptev AV, Shchepkina IuV. [Immunochemical detection of phenylalanine hydroxylase in extracts of various human organs]. Vopr Med Khim 1988 May-Jun;34(3):113-6. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3420798&dopt;=Abstract

Christensen HN. Where do the depleted plasma amino acids go in phenylketonuria? [letter]. Biochem J 1986 Jun 15;236(3):929-30. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3790098&dopt;=Abstract

Cockburn F, Farquhar JW, Forfar JO, Giles M, Robins SP. Maternal hyperphenylalaninaemia in the normal and phenylketonuric mother and its influence on maternal plasma and fetal fluid amino acid concentrations. J Obstet Gynaecol Br Commonw 1972 Aug;79(8):698-707. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5070883&dopt;=Abstract

Coleman EA. Commentary on Trends in Health Care: the Price of Prevention. ONS Nurs Scan Oncol 1995 Jul-Aug;4(4):7. Original article by Leutwyler K appears in Sci Am 1995;272(4):124-9.

Cowie V. The effect of the environment... can put fetuses at risk of mental subnormality. Nurs Mirror 1982 Sep 15;155(11):34-6.

Crowley JR, Midgley JM, Couch MW, Garnica A, Williams CM. Increased excretion of o-hydroxymandelic acid in phenylketonuria. Biomed Mass Spectrom 1980 Aug;7(8):349-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6779876&dopt;=Abstract

Curtius HC, Adler C, Heizmann C, Blau N, Rebrin I, Ghisla S. 7-substituted pterins: formation and occurrence. J Nutr Sci Vitaminol (Tokyo) 1992;Spec No:501-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1297797&dopt;=Abstract

Curtius HC, Kuster T, Matasovic A, Blau N, Dhondt JL. Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun 1988 Jun 16;153(2):715-21. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3382399&dopt;=Abstract

Cynober L, Saizy R, Nguyen Dinh F, Dreysse C, Lioret N, Mousset L. [Blood cortisol level variations in burn patients and their relation to variations in plasma amino acids. Biochemical study of 19 subjects]. Ann Fr Anesth Reanim 1982;1(3):307-12. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7165146&dopt;=Abstract

de Cespedes C, Santisteban I, Ortiz D, Rojas E, Rodriguez J, Nanne C, Orlich J. [Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica]. Rev Biol Trop 1983 Jun;31(1):1-9. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6665250&dopt;=Abstract

De Giorgis GF, Nonnis E, Crocioni F, Gregori P, Rosini MP, Leuzzi V, Loizzo A. Evolution of daytime quiet sleep components in early treated phenylketonuric infants. Brain Dev 1996 May-Jun;18(3):201-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8836501&dopt;=Abstract

De Groot CJ, Hommes FA. Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes. Enzyme 1982;28(4):404-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7151779&dopt;=Abstract

Degioanni A, Darlu P. Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus. Eur J Hum Genet 1994;2(3):166-76. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7834276&dopt;=Abstract

Desviat LR, Perez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am J Hum Genet 1995 Aug;57(2):337-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7825597&dopt;=Abstract

Devi KS, Devi AR, Kondaiah P. Amplification of phenylalanine hydroxylase and cystathionine beta-synthase transcripts in human peripheral lymphocytes by RT-PCR. Biochem Mol Biol Int 1998 Jul;45(4):643-50. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9713686&dopt;=Abstract

Dhondt JL, Bellhasene Z, Largilliere C, Bonneterre J, Farriaux JP. [Normal and pathologic metabolism of pteridines in man]. LARC Med 1982 May;2(5):431-3. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7167018&dopt;=Abstract

Di Silvestre D, Pandya A, Koch R, Groffen J. DNA haplotype analyses of patients with hyperphenylalaninemia. Am J Hum Genet 1990 Oct;47(4):706-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2220810&dopt;=Abstract

Diamond A, Herzberg C. Impaired sensitivity to visual contrast in children treated early and continuously for phenylketonuria. Brain 1996 Apr;119 ( Pt 2):523-38. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8800946&dopt;=Abstract

Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev 1997;62(4):i-v, 1-208. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9421921&dopt;=Abstract

DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SL. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 1986 Aug 28-Sep 3;322(6082):799-803. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3018584&dopt;=Abstract

DiSilvestre D, Koch R, Groffen J. Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes [letter]. Am J Hum Genet 1991 May;48(5):1014-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2018035&dopt;=Abstract

Dworniczak B, Aulehla-Scholz C, Horst J. Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles. Clin Genet 1990 Oct;38(4):270-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2268974&dopt;=Abstract

Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholome K, Grudda K, Horst J. Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 1991 Oct;11(2):242-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1769645&dopt;=Abstract

Economou-Petersen E, Henriksen KF, Guldberg P, Guttler F. Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 1992 Sep;14(1):1-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1358789&dopt;=Abstract

Eiken HG, Stangeland K, Skjelkvale L, Knappskog PM, Boman H, Apold J. PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics. Hum Genet 1992 Mar;88(6):608-12. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1312992&dopt;=Abstract

Endres W, Ibel H, Kierat L, Blau N, Curtius HC. Tetrahydrobiopterin and non-responsive dihydropteridine reductase deficiency [letter]. Lancet 1987 Jul 25;2(8552):223. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2885683&dopt;=Abstract

Epstein CM, Trotter JF, Averbook A, Freeman S, Kutner MH, Elsas LJ. EEG mean frequencies are sensitive indices of phenylalanine effects on normal brain. Electroencephalogr Clin Neurophysiol 1989 Feb;72(2):133-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2464484&dopt;=Abstract

Farriaux JP. [20 years' neonatal detection. Results and prospects]. Pediatrie 1988;43(4):293-5. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3419871&dopt;=Abstract

Fekkes D, Voskuilen-Kooyman A, Jankie R, Huijmans J. Precise analysis of primary amino acids in urine by an automated high-performance liquid chromatography method: Comparison with ion-exchange chromatography. J Chromatog B Biomed Sci Appl 2000 Jul 7;744(1):183-8.

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Fischer GM, Nemeti B, Farkas V, Debreceni B, Laszlo A, Schaffer Z, Somogyi C, Sandor A. Metabolism of carnitine in phenylacetic acid-treated rats and in patients with phenylketonuria. Biochim Biophys Acta 2000 Jun 15;1501(2-3):200-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10838193&dopt;=Abstract

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Ullrich K, Weglage J, Oberwittler C, Pietsch M, Funders B, van Eckhardstein H, Colombo JP. Effect of L-dopa on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria. J Inherit Metab Dis 1994;17(3):349-52. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7807950&dopt;=Abstract

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Vavich JM, Howell RR. Rapid identification and quantitation of urinary metabolites of phenylalanine in phenylketonuria by gas chromatography. J Lab Clin Med 1971 Jan;77(1):159-67. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=5540425&dopt;=Abstract

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Vorhees CV, Berry HK. Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. Pediatr Res 1989 Jun;25(6):568-72. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2740145&dopt;=Abstract

Waisbren SE, Schnell R, Levy HL. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr 1984 Dec;105(6):955-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6502349&dopt;=Abstract

Wang YL, Yu B. Effect of peroxovanadate compound on phenylalanine hydroxylase gene expression. Biol Trace Elem Res 2000;74(3):237-44.

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Watts RW, Baraitser M, Chalmers RA, Purkiss P. Organic acidurias and amino acidurias in the aetiology of long-term mental handicap. J Ment Defic Res 1980 Dec;24 Pt 4:257-70. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6783756&dopt;=Abstract

Weglage J, Bick U, Schuierer G, Pietsch M, Sprinz A, Zass R, Ullrich K. Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence [letter]. Neuropediatrics 1997 Aug;28(4):239-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9309716&dopt;=Abstract

Weglage J, Pietsch M, Funders B, Koch HG, Ullrich K. Neurological findings in early treated phenylketonuria. Acta Paediatr 1995 Apr;84(4):411-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7795351&dopt;=Abstract

Weglage J, Ullrich K, Pietsch M, Funders B, Zass R, Koch HG. No fine motor deficits in patients with untreated non-phenylketonuria hyperphenylalaninaemia. Acta Paediatr 1996 Mar;85(3):320-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8695989&dopt;=Abstract

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Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. Hum Genet 1993 Feb;90(6):645-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8095248&dopt;=Abstract

Wendel U, Ozalp I, Langenbeck U, Hummel W. Phenylketonuria in Turkey: experience with an enzymatic colorimetric test for measurement of serum phenylalanine. J Inherit Metab Dis 1990;13(3):295-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2122089&dopt;=Abstract

Wenger SL, Vieira PW, Breck JM, Steele MW. Relative reliability of three different discriminant analysis methods for detecting PKU gene carriers. Clin Genet 1986 Jul;30(1):38-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3757295&dopt;=Abstract

Widaman KF. Process of analyses of data: Benefits and costs associated with collaborative studies. Ment Retard Dev Disabil Res Rev 1999;5(2):155-61.

Wilke BC, Vidailhet M, Favier A, Guillemin C, Ducros V, Arnaud J, Richard MJ. Selenium, glutathione peroxidase (GSH-Px) and lipid peroxidation products before and after selenium supplementation. Clin Chim Acta 1992 Apr 30;207(1-2):137-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1591861&dopt;=Abstract

Wilke BC, Vidailhet M, Richard MJ, Ducros V, Arnaud J, Favier A. [Trace elements balance in treated phenylketonuria children. Consequences of selenium deficiency on lipid peroxidation]. Arch Latinoam Nutr 1993 Jun;43(2):119-22. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8779620&dopt;=Abstract

Yokoyama Y, Sato H, Tsuchiya M, Kakinuma H. Simultaneous determination of urinary creatinine and aromatic amino acids by cation-exchange chromatography with ultraviolet detection. J Chromatogr 1991 May 3;566(1):19-28. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1885711&dopt;=Abstract

Zarfin Y, Szeinberg A, Cohen B. [Malignant hyperphenylalaninemia (editorial)]. Harefuah 1981 Jun 1;100(11):539-40. (Heb). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7338324&dopt;=Abstract

Zekanowski C, Cabalska B, Borsuk P, Bal J. Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. Hum Mutat 1997;10(3):258-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9298832&dopt;=Abstract

Zekanowski C, Nowacka M, Gi~zewska M, Filipowicz J, Cabalska B, Bal J. Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. Genet Test 1999;3(3):297-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10495930&dopt;=Abstract

Zeman J, Houst'kova H, Hyanek J, Rubin A, Niederwieser A, Simkova M, Leeming RJ. [Transitory hyperphenylalaninemia with a tetrahydrobiopterin synthesis deficiency]. Cesk Pediatr 1987 Jul;42(7):426-8. (Cze). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3652262&dopt;=Abstract

Zhang LF, Yu YL, Yang RY. Direct determination of phenylalanine in serum extracts of phenylketonuria patients by reversed-phase high-performance liquid chromatography. J Chromatogr 1983 Dec 30;282:333-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6674314&dopt;=Abstract

Zhao G, Xia T, Song J, Jensen RA. Pseudomonas aeruginosa possesses homologues of mammalian phenylalanine hydroxylase and 4 alpha-carbinolamine dehydratase/DCoH as part of a three-component gene cluster. Proc Natl Acad Sci U S A 1994 Feb 15;91(4):1366-70. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8108417&dopt;=Abstract

Zygulska M, Eigel A, Pietrzyk JJ, Horst J. Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus. Hum Mutat 1994;4(4):297-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7866411&dopt;=Abstract

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Genetics

Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J. Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. Hum Mol Genet 1993 Jan;2(1):31-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8098245&dopt;=Abstract

Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A. CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 1989 Nov;5(4):936-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2574153&dopt;=Abstract

al Aqeel A, Ozand PT, Gascon G, Nester M, al Nasser M, Brismar J, Blau N, Hughes H, Subramanyan SB, Reynolds CT. Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology 1991 May;41(5):730-7. Comment in: Neurology 1992 Mar;42(3 Pt 1):704-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2027491&dopt;=Abstract

Ananth J, Brown RD, Kravitz E. Familial manic depression, phenylketonuria and acromegaly [letter]. Can J Psychiatry 1982 Apr;27(3):258-60. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7093881&dopt;=Abstract

Ando A, Momomura K, Tobe K, Yamamoto-Honda R, Sakura H, Tamori Y, Kaburagi Y, Koshio O, Akanuma Y, Yazaki Y, et al. Enhanced insulin-induced mitogenesis and mitogen-activated protein kinase activities in mutant insulin receptors with substitution of two COOH-terminal tyrosine autophosphorylation sites by phenylalanine. J Biol Chem 1992 Jun 25;267(18):12788-96. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1618780&dopt;=Abstract

Annenkov GA, Safronova EE. [Presence of active phenylalanine hydroxylase in human leukocytes]. Vopr Med Khim 1981 Mar-Apr;27(2):266-71. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7281569&dopt;=Abstract

Argaet VP, Wilson TJ, Davidson BE. Purification of the Escherichia coli regulatory protein TyrR and analysis of its interactions with ATP, tyrosine, phenylalanine, and tryptophan. J Biol Chem 1994 Feb 18;269(7):5171-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8106498&dopt;=Abstract

Argiolas A, Bosco P, Cali F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V. Two novel PAH gene mutations detected in Italian phenylketonuric patients. Hum Genet 1997 Feb;99(2):275-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9048935&dopt;=Abstract

Ashida A, Owada M, Hatakeyama K. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics 1994 Nov 15;24(2):408-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7698774&dopt;=Abstract

Atypical phenylketonuria due to dihydrobiopterin synthetase deficiency. Nutr Rev 1980 Feb;38(2):81-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7383446&dopt;=Abstract

Avigad S, Kleiman S, Weinstein M, Cohen BE, Schwartz G, Woo SL, Shiloh Y. Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria. Am J Hum Genet 1991 Aug;49(2):393-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1867197&dopt;=Abstract

Balasubramanian S, Carr RT, Bender CJ, Peisach J, Benkovic SJ. Identification of metal ligands in Cu(II)-inhibited Chromobacterium violaceum phenylalanine hydroxylase by electron spin echo envelope modulation analysis of histidine to serine mutations. Biochemistry 1994 Jul 19;33(28):8532-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8031788&dopt;=Abstract

Balci S, Tanzer F, Atasu M, Ozalp I. Dermatoglyphic study in children with phenylketonuria. J Inherit Metab Dis 1989;12(3):323-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2515374&dopt;=Abstract

Baranovskaya S, Shevtsov S, Maksimova S, Kuzmin A, Schwartz E. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. J Inherit Metab Dis 1996;19(5):705. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8892033&dopt;=Abstract

Barendse W, Armitage SM, Womack JE, Hetzel J. Linkage relations between A2M, HOX3, INT1, KRAS2, and PAH on bovine chromosome 5. Genomics 1992 Sep;14(1):38-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1385300&dopt;=Abstract

Baric I, Mardesic D, Gjuric G, Sarnavka V, Gobel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. Haplotype distribution and mutations at the PAH locus in Croatia. Hum Genet 1992 Sep-Oct;90(1-2):155-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1358784&dopt;=Abstract

Baric I, Mardesic D, Sarnavoka V, Lichter-Konecki U, Konecki DS, Trefz FK. Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe. J Inherit Metab Dis 1994;17(3):376-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7807961&dopt;=Abstract

Bel Y, Ferre J. Regulation of pteridine biosynthesis and aromatic amino acid hydroxylation in Drosophila melanogaster. Biochem Genet 1989 Feb;27(1-2):59-76. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2496683&dopt;=Abstract

Benit P, Rey F, Blandin-Savoja F, Munnich A, Abadie V, Rey J. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol Genet Metab 1999 Sep;68(1):43-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10479481&dopt;=Abstract

Benit P, Rey F, Melle D, Munnich A, Rey J. Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. Hum Mutat 1994;4(3):229-31. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7833954&dopt;=Abstract

Benit P, Rey F, Melle D, Munnich A, Rey J. Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria. Hum Mol Genet 1994 Apr;3(4):675-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8069318&dopt;=Abstract

Berry A, Johnson JL, Jensen RA. Phenylalanine hydroxylase and isozymes of 3-deoxy-D-arabino-heptulosonate 7-phosphate synthase in relationship to the phylogenetic position of Pseudomonas acidovorans (Ps. sp. ATCC 11299a). Arch Microbiol 1985 Feb;141(1):32-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2859843&dopt;=Abstract

Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, Feingold J, Frezal J, Briard ML, Farriaux JP, Guibaud P, et al. Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Hum Genet 1991 Feb;86(4):355-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1671847&dopt;=Abstract

Bessman SP. Phenylketonuria--a genetic intrauterine nutritional deficiency. Nutr MD 1992 Jan;18(1):5.

Bessman SP, Choi H, Tomaszewski L. The justification theory: the effect of tyrosine deficiency on tubulin synthesis in the brain. Prog Clin Biol Res 1982;79:187-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7088964&dopt;=Abstract

Bessman SP, Williamson ML, Koch R. Diet, genetics, and mental retardation interaction between phenylketonuric heterozygous mother and fetus to produce nonspecific diminution of IQ: evidence in support of the justification hypothesis. Proc Natl Acad Sci U S A 1978 Mar;75(3):1562-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=274741&dopt;=Abstract

Bickel H. Differential diagnosis and treatment of hyperphenylalaninaemia. Prog Clin Biol Res 1985;177:93-107. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4011611&dopt;=Abstract

Bickel H, Trefz FK. [Aspartame: a sweetening agent with a high phenylalanine content]. Monatsschr Kinderheilkd 1986 Jul;134(7):478-80. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3748044&dopt;=Abstract

Bjorgo E, Knappskog PM, Martinez A, Stevens RC, Flatmark T. Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria. Eur J Biochem 1998 Oct 1;257(1):1-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9799096&dopt;=Abstract

Blau K, Levitt GA, Harvey DR. Hyperphenylalaninemia with defective transamination. Clin Chim Acta 1983 Jul 31;132(1):43-51. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6616862&dopt;=Abstract

Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thony B. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Hum Mutat 2000;16(1):54-60. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10874306&dopt;=Abstract

Bliumina MG. [Phenylalanine level in the serum of heterozygotes for phenylketonuria under intensified protein catabolism]. Genetika 1981;17(5):910-4. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7195856&dopt;=Abstract

Bode VC, McDonald JD, Guenet JL, Simon D. hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 1988 Feb;118(2):299-305. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3360305&dopt;=Abstract

Bosco P, Ceratto N, Cali F, Goltsov AA, Eisensmith RC, Novelli G, Dalla Piccola B, Romano V. RFLP discordance in a PKU family due to a deletion in the PAH gene. Turk J Pediatr 1996 Oct-Dec;38(4):497-504. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8993180&dopt;=Abstract

Boyaval P, Moreira E, Desmazeaud MJ. [Transport of phenylalanine and tyrosine in Brevibacterium linens: specificity and incorporation into proteins]. Can J Microbiol 1984 Apr;30(4):430-8. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6744119&dopt;=Abstract

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Zygulska M, Eigel A, Pietrzyk JJ, Horst J. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria. Hum Mutat 1993;2(3):238-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8364593&dopt;=Abstract

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Pathology and Physiopathology

Abadie V, Rey F, Plainguet F, Rey J. [Intellectual development after relaxing the diet at the age of 5 years in typical phenylketonuria]. Arch Fr Pediatr 1992 Nov;49(9):773-8. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1300964&dopt;=Abstract

Aboul-Ezz EH, Hilal ED, Girgis AS, Temtamy SA, Nassar NM, Ismail SR. Orodental and ultrastructural studies of pulp and gingiva in phenylketonuria. J Egypt Public Health Assoc 1988;63(3-4):227-39. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2979943&dopt;=Abstract

Acosta PB, Fernhoff PM, Warshaw HS, Elsas LJ, Hambidge KM, Ernest A, McCabe ER. Zinc status and growth of children undergoing treatment for phenylketonuria. J Inherit Metab Dis 1982;5(2):107-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6820419&dopt;=Abstract

Acosta PB, Yannicelli S. Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr Suppl 1994 Dec;407:66-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766962&dopt;=Abstract

Acosta PB, Yannicelli S, Marriage B, Mantia C, Gaffield B, Porterfield M, Hunt M, McMaster N, Bernstein L, Parton P, Kuehn M, Lewis V. Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr 1998 Sep;27(3):287-91. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9740198&dopt;=Abstract

Agostoni C, Riva E, Galli C, Marangoni F, Luotti D, Giovannini M. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children are correlated with dietary compliance. Z Ernahrungswiss 1998;37 Suppl 1:122-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9558743&dopt;=Abstract

Al-Qadreh A, Schulpis KH, Athanasopoulou H, Mengreli C, Skarpalezou A, Voskaki I. Bone mineral status in children with phenylketonuria under treatment. Acta Paediatr 1998 Nov;87(11):1162-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9846918&dopt;=Abstract

Alejandre MJ, Marco C, Ramirez H, Segovia JL, Garcia-Peregrin E. Lipid composition of brain myelin from normal and hyperphenylalaninemic chick embryos. Comp Biochem Physiol B 1984;77(2):329-32. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6321098&dopt;=Abstract

Allen JR, Baur LA, Waters DL, Humphries IR, Allen BJ, Roberts DC, Gaskin KJ. Body protein in prepubertal children with phenylketonuria. Eur J Clin Nutr 1996 Mar;50(3):178-86. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8654332&dopt;=Abstract

Allen JR, Humphries IR, Waters DL, Roberts DC, Lipson AH, Howman-Giles RG, Gaskin KJ. Decreased bone mineral density in children with phenylketonuria. Am J Clin Nutr 1994 Feb;59(2):419-22. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8310995&dopt;=Abstract

Allen RJ. Neurological deterioration in young adults with phenylketonuria [letter]. Lancet 1990 Oct 13;336(8720):949. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1976967&dopt;=Abstract

Anderson DN, Wilkinson AM, Abou-Saleh MT, Blair JA. Recovery from depression after electroconvulsive therapy is accompanied by evidence of increased tetrahydrobiopterin-dependent hydroxylation. Acta Psychiatr Scand 1994 Jul;90(1):10-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7976441&dopt;=Abstract

Anderson GH, Leiter LA. Effects of aspartame and phenylalanine on meal-time food intake of humans. Appetite 1988;11Suppl 1:48-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3056266&dopt;=Abstract

Anderson PA, Baker DH, Sherry PA, Corbin JE. Histidine, phenylalanine-tyrosine and tryptophan requirements for growth of the young kitten. J Anim Sci 1980 Mar;50(3):479-83. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7364684&dopt;=Abstract

Arakawa T, Saito TG, Minagawa A, Shioji R, Kobayashi M, Chikaoka H, Katsushima N. Higher excretion of urinary bound amino acids in infants: probably related to protein-anabolic effect of growth hormone. Tohoku J Exp Med 1982 May;137(1):1-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6808702&dopt;=Abstract

Arnold GL, Kramer BM, Kirby RS, Plumeau PB, Blakely EM, Sanger Cregan LS, Davidson PW. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998 May;87(5):565-70. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9641741&dopt;=Abstract

Atwell RA, Berlin SJ. Lower extremity manifestations of phenylketonuria. J Foot Surg 1983 Spring;22(1):3-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6643924&dopt;=Abstract

Baba H, Sato S, Inuzuka T, Miyatake T. Developmental changes of myelin-associated glycoprotein in rat brain: study on experimental hyperphenylalaninemia. Neurochem Res 1987 May;12(5):459-63. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2438567&dopt;=Abstract

Backwell FR, Bequette BJ, Wilson D, Calder AG, Metcalf JA, Wray-Cahen D, MacRae JC, Beever DE, Lobley GE. Utilization of dipeptides by the caprine mammary gland for milk protein synthesis. Am J Physiol 1994 Jul;267(1 Pt 2):R1-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8048612&dopt;=Abstract

Ball RO, Atkinson JL, Bayley HS. Proline as an essential amino acid for the young pig. Br J Nutr 1986 May;55(3):659-68. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3676183&dopt;=Abstract

Ball RO, Bayley HS. Time course of the total and radioactive carbon dioxide production by piglets receiving dietary [14C]phenylalanine. Can J Physiol Pharmacol 1985 Sep;63(9):1170-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3931891&dopt;=Abstract

Ballinger AB, Clark ML. L-phenylalanine releases cholecystokinin (CCK) and is associated with reduced food intake in humans: evidence for a physiological role of CCK in control of eating. Metab Clin Exp 1994 Jun;43(6):735-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8201963&dopt;=Abstract

Barashnev YI, Korneichuk VV, Klembovsky AI, Klyushina LA. Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria. J Inherit Metab Dis 1982;5(4):204-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6820442&dopt;=Abstract

Battistini S, De Stefano N, Parlanti S, Federico A. Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment. Funct Neurol 1991 Apr-Jun;6(2):177-80. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1916459&dopt;=Abstract

Bauman ML, Kemper TL. Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria. Acta Neuropathol (Berl) 1982;58(1):55-63. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7136517&dopt;=Abstract

Beaudette T. Metabolic disorders of childhood: nutritional management. Semin Nutr 1994 Mar-Apr;13(4):1-18.

Behbehani AW. Termination of strict diet therapy in phenylketonuria. A study on EEG sleep patterns and computer spectral analysis. Neuropediatrics 1985 May;16(2):92-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4010896&dopt;=Abstract

Bel Y, Jacobson KB, Ferre J. A comparative study of Drosophila phenylalanine hydroxylase with a natural and a synthetic tetrahydropterin as cofactor. Comp Biochem Physiol [B] 1992 Nov;103(3):557-62. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1458831&dopt;=Abstract

Bel Y, Jacobson KB, Silva FJ, Ferre J. Developmental and biochemical studies on the phenylalanine hydroxylation system in Drosophila melanogaster. Insect Biochem Mol Biol 1992 Oct;22(7):633-8.

Bell JM, John AM. Amino acid requirements of growing mice: arginine, lysine, tryptophan and phenylalanine. J Nutr 1981 Mar;111(3):525-30. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6782203&dopt;=Abstract

Bell L, Acosta PB, Chan L. Amino acid content of low-protein recipes. J Am Diet Assoc 1982 Jun;80(6):579-80. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7086011&dopt;=Abstract

Beschle HG, Sussmuth R, Lingens F. Conversion of chloramphenicol degradation products by tyrosine aminotransferase from Flavobacteria. Hoppe Seylers Z Physiol Chem 1982 Apr;363(4):439-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6122637&dopt;=Abstract

Bick U, Fahrendorf G, Ludolph AC, Vassallo P, Weglage J, Ullrich K. Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. Eur J Pediatr 1991 Jan;150(3):185-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2044589&dopt;=Abstract

Biolo G, Maggi SP, Williams BD, Tipton KD, Wolfe RR. Increased rates of muscle protein turnover and amino acid transport after resistance exercise in humans. Am J Physiol 1995 Mar;268(3 Pt 1):E514-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7900797&dopt;=Abstract

Biolo G, Tessari P, Inchiostro S, Bruttomesso D, Sabadin L, Fongher C, Panebianco G, Fratton MG, Tiengo A. Fasting and postmeal phenylalanine metabolism in mild type 2 diabetes. Am J Physiol 1992 Nov;263(5 Pt 1):E877-83. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1443120&dopt;=Abstract

Blaauw Ide, Deutz NEP, Meyenfeldt MFvon. In vivo amino acid metabolism of gut and liver during short and prolonged starvation. Am J Physiol 1996 Feb;270(2 Pt 1):G298-306. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8779972&dopt;=Abstract

Blaskovics M, Engel R, Podosin RL, Azen CG, Friedman EG. EEG pattern in phenylketonuria under early initiated dietary treatment. Am J Dis Child 1981 Sep;135(9):802-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7282654&dopt;=Abstract

Bliudzin YuA, Zuber VL. [Composition of fatty acids of glycerophospholipids in the brain of growing rats during demyelinization]. Nervn Sist 1982;1982(23):125-9. (Rus).

Bliumina MG. [Phenylketonuria with congenital megaloblastic anemia]. Pediatriia 1981 Dec;(12):56-7. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7335427&dopt;=Abstract

Blomstrand E, Newsholme EA. Effect of branched-chain amino acid supplementation on the exercise-induced change in aromatic amino acid concentration in human muscle. Acta Physiol Scand 1992 Nov;146(3):293-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1481685&dopt;=Abstract

Blomstrand E, Perrett D, Parry-Billings M, Newsholme EA. Effect of sustained exercise on plasma amino acid concentrations and on 5-hydroxytryptamine metabolism in six different brain regions in the rat. Acta Physiol Scand 1989 Jul;136(3):473-81. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2473602&dopt;=Abstract

Bouteloup-Demange C, Boirie Y, Dechelotte P, Gachon P, Beaufrere B. Gut mucosal protein synthesis in fed and fasted humans. Am J Physiol 1998 Mar;274(3 Pt 1):E541-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9530139&dopt;=Abstract

Bowe K. Phenylketonuria: an update for pediatric community health nurses. Pediatr Nurs 1995 Mar-Apr;21(2):191-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7746688&dopt;=Abstract

Bradburn NC, Wappner RS, Lemons JA, Meyer BA, Roberts RS. Lactation and phenylketonuria. Am J Perinatol 1985 Apr;2(2):138-41. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4096753&dopt;=Abstract

Bross R, Ball RO, Clarke JT, Pencharz PB. Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation. Am J Physiol Endocrinol Metab 2000 Feb;278(2):E195-201. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10662702&dopt;=Abstract

Brown EH, Berry HK, Olson J, Levinson J. Phenylketonuria and scleroderma. J Inherit Metab Dis 1986;9(4):405-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3104681&dopt;=Abstract

Brunner RL, Berch DB, Berry H. Phenylketonuria and complex spatial visualization: an analysis of information processing. Dev Med Child Neurol 1987 Aug;29(4):460-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3678625&dopt;=Abstract

Buhrdel P, Dabritz S, Theile H. [Effect of dietary measures on body weight and height of children with phenylketonuria in East Germany]. Klin Padiatr 1997 Jan-Feb;209(1):26-9. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9121074&dopt;=Abstract

Burgard P, Armbruster M, Schmidt E, Rupp A. Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria. Acta Paediatr Suppl 1994 Dec;407:108-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766943&dopt;=Abstract

Burgert SL, Andersen DW, Stegink LD, Takeuchi H, Schedl HP. Metabolism of aspartame and its L-phenylalanine methyl ester decomposition product by the porcine gut. Metab Clin Exp 1991 Jun;40(6):612-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1865825&dopt;=Abstract

Burns TS, Stargel WW, Hurwitz A. Bioavailability of phenylalanine and aspartate from aspartame (20 mg/kg) in capsules and solution. Metab Clin Exp 1990 Nov;39(11):1200-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2233283&dopt;=Abstract

Burri R, Matthieu JM, Vandevelde M, Lazeyras F, Posse S, Herschkowitz N. Brain damage and recovery in hyperphenylalaninemic rats. Dev Neurosci 1990;12(2):116-25. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2159398&dopt;=Abstract

Burri R, Steffen C, Stieger S, Brodbeck U, Colombo JP, Herschkowitz N. Reduced myelinogenesis and recovery in hyperphenylalaninemic rats. Correlation between brain phenylalanine levels, characteristic brain enzymes for myelination, and brain development. Mol Chem Neuropathol 1990 Aug-Oct;13(1-2):57-69. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2095783&dopt;=Abstract

Burrin DG, Davis TA, Ebner S, Schoknecht PA, Fiorotto ML, Reeds PJ. Colostrum enhances the nutritional stimulation of vital organ protein synthesis in neonatal pigs. J Nutr 1997 Jul;127(7):1284-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9202081&dopt;=Abstract

Burton EG, Dal Monte P, Spears C, Frank P, Oppermann JA. Absorption by the rhesus monkey of phenylalanine methyl ester and species differences in its metabolism by blood, plasma and intestinal mucosa. J Nutr 1984 Oct;114(10):1940-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6481486&dopt;=Abstract

Burton EG, Schoenhard GL, Hill JA, Schmidt RE, Hribar JD, Kotsonis FN, Oppermann JA. Identification of N-beta-L-aspartyl-L-phenylalanine as a normal constituent of human plasma and urine. J Nutr 1989 May;119(5):713-21. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2723819&dopt;=Abstract

Buyukgebiz B, Eroglu Y, Buy ukgebiz A. True precocious puberty associated with phenylketonuria. J Pediatr Endocrinol 1994 Oct-Dec;7(4):361-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7735376&dopt;=Abstract

Calomme M, Vanderpas J, Francois B, Van Caillie-Bertrand M, Vanovervelt N, Van Hoorebeke C, Vanden Berghe D. Effects of selenium supplementation on thyroid hormone metabolism in phenylketonuria subjects on a phenylalanine restricted diet. Biol Trace Elem Res 1995 Jan-Mar;47(1-3):349-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7779569&dopt;=Abstract

Cardona F, Leuzzi V, Antonozzi I, Benedetti P, Loizzo A. The development of auditory and visual evoked potentials in early treated phenylketonuric children. Electroencephalogr Clin Neurophysiol 1991 Jan-Feb;80(1):8-15. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1703954&dopt;=Abstract

Carson DJ, Greeves LG, Sweeney LE, Crone MD. Osteopenia and phenylketonuria. Pediatr Radiol 1990;20(8):598-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2251005&dopt;=Abstract

Casamassimo PS, et al. Dental health in children with Phenylketonuria, PKU: and other inborn errors of metabolism managed by diet. Rockville (MD): Department of Health and Human Services (US), Public Health Service, Health Resources and Services Administration, Bureau of Health Care Delivery and Assistance, Division of Maternal and Child Health; 1984. 28 p. (DHHS publication; HRS-D-MC 84-1).

Celiker V, Dural O, Erdem K. Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria. Turk J Pediatr 1993 Apr-Jun;35(2):127-30. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8249192&dopt;=Abstract

Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Phenylketonuria: diet for life or not? Acta Paediatr 1999 Jun;88(6):664-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10419254&dopt;=Abstract

Choi YH, Furuse M, Okumura J, Shimoyama Y, Sugahara K, Denbow DM. Intracerebroventricularly administered phenylalanine and tyrosine: effects on feeding behavior and norepinephrine concentrations of specific brain sites in the chicken. Asian Australas J Anim Sci 1996 Jun;9(3):255-9.

Cleary MA, Walter JH, Wraith JE, Jenkins JP, Alani SM, Tyler K, Whittle D. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 1994 Jul 9;344(8915):87-90. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7912392&dopt;=Abstract

Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 1995 Aug;127(2):251-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7636650&dopt;=Abstract

Cordero ME, Trejo M, Colombo M, Aranda V. Histological maturation of the neocortex in phenylketonuric rats. Early Hum Dev 1983 Jul;8(2):157-73. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6684021&dopt;=Abstract

Coskun T, Ozalp I, Kale G, Gogus S. Scleroderma-like skin lesions in two patients with phenylketonuria. Eur J Pediatr 1990 Dec;150(2):109-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2279504&dopt;=Abstract

Cotticelli L, Costagliola C, Rinaldi E, DiMeo A, Sartorio R, Vajro P, Andria G. Ophthalmological findings of phenylketonuria: a survey of 14 cases. J Pediatr Ophthalmol Strabismus 1985 Mar-Apr;22(2):78-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3989646&dopt;=Abstract

Craft S, Gourovitch ML, Dowton SB, Swanson JM, Bonforte S. Lateralized deficits in visual attention in males with developmental dopamine depletion. Neuropsychologia 1992 Apr;30(4):341-51. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1603297&dopt;=Abstract

Danks DM, Bartholome K, Clayton BE, Curtius H, Grobe H, Kaufman S, Leeming R, Pfleiderer W, Rembold H, Rey F. Malignant hyperphenylalaninaemia--current status (June 1977). J Inherit Metab Dis 1978;1(2):49-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=117241&dopt;=Abstract

Davis TA, Fiorotto ML, Nguyen HV, Burrin DG. Aminoacyl-tRNA and tissue free amino acid pools are equilibrated after a flooding dose of phenylalanine. Am J Physiol 1999 Jul;277(1 Pt. 1):E103-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10409133&dopt;=Abstract

De Giorgis GF, Antonozzi I, Del Castello PG, Rosano M, Loizzo A. EEG as a possible prognostic tool in phenylketonuria. Electroencephalogr Clin Neurophysiol 1983 Jan;55(1):60-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6185303&dopt;=Abstract

de la Fuente Aguado J, Jimenez-Beatty Navarro MD, Rego Iraeta A, Prieto Lopez MI, Paramo C. [Peptic ulcer disease associated with phenylketonuria (letter)]. An Med Interna 1994 Nov;11(11):567. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7654913&dopt;=Abstract

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Smith I, Beasley MG, Wolff OH, Ades AE. Behavior disturbance in 8-year-old children with early treated phenylketonuria. Report from the MRC/DHSS Phenylketonuria Register. J Pediatr 1988 Mar;112(3):403-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3346777&dopt;=Abstract

Smith I, Glossop J, Beasley M. Fetal damage due to maternal phenylketonuria: effects of dietary treatment and maternal phenylalanine concentrations around the time of conception (an interim report from the UK Phenylketonuria Register). J Inherit Metab Dis 1990;13(4):651-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2122128&dopt;=Abstract

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Spero DA, Yu MC. Effects of maternal hyperphenylalaninemia on fetal brain development: a biochemical study. Exp Neurol 1983 Mar;79(3):641-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6186515&dopt;=Abstract

Spero DA, Yu MC. Effects of maternal hyperphenylalaninemia on fetal brain development: a morphological study. Exp Neurol 1983 Mar;79(3):655-65. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6681776&dopt;=Abstract

Srivastava US, Thakur ML, Van TT, Radhakrishnamurty R. Maternal food restriction, brain polysomes and poly-U stimulated protein synthesis in the newborn and 21-day-old rat progeny. Nutr Res 1993 Nov;13(11):1331-41.

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Tanaka H, Nakatomi Y, Ogura M. Metabolism of phenylalanine, tyrosine and aspartic acid in growing rats at various dietary protein levels. Agric Biol Chem 1987 Feb;51(2):499-505.

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Tork I, Halliday GM, Cotton RG. Application of antiphenylalanine hydroxylase antibodies to the study of the serotonergic system in the human brain. J Chem Neuroanat 1992 Jul-Aug;5(4):311-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1524718&dopt;=Abstract

Torok E, Kovacs J. [Scleroderma associated with phenylketonuria]. Orv Hetil 1981 Sep 13;122(37):2273-5. (Hun). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7312344&dopt;=Abstract

Turk E. Hyperphenylalaninemia - induced alterations of cerebral synthesis in the rat [dissertation]. Los Angeles: University of California; 1984. 173 p.

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van Spronsen FJ, Verkerk PH, van Houten M, Smit GP, van der Meer SB, Bakker HD, Sengers RC. Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering Committee. Acta Paediatr 1997 Aug;86(8):816-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9307159&dopt;=Abstract

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Verkerk PH, van Spronsen FJ, van Houten M, Smit GP, Sengers RC. Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early. Dutch National PKU Steering Committee. Acta Paediatr Suppl 1994 Dec;407:70-2. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7766963&dopt;=Abstract

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Weglage J, Pietsch M, Denecke J, Sprinz A, Feldmann R, Grenzebach M, Ullrich K. Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence. J Inherit Metab Dis 1999 Aug;22(6):693-705. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10472530&dopt;=Abstract

Weglage J, Schmidt E, Funders B, Pietsch M, Ullrich K. Sustained attention in untreated non-PKU-hyperphenylalaninemia. J Clin Exp Neuropsychol 1996 Jun;18(3):343-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8877619&dopt;=Abstract

Weglage J, Schuierer G, Kurlemann G, Bick R, Ullrich K. Different degrees of white matter abnormalities in untreated phenylketonurics: findings in magnetic resonance imaging. J Inherit Metab Dis 1993;16(6):1047-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8127058&dopt;=Abstract

Weglage J, Ullrich K, Pietsch M, Funders B, Zass R, Koch HG. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. Eur J Pediatr 1996 Jul;155 Suppl 1:S26-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828604&dopt;=Abstract

Wen GY, Wisniewski HM, Shek JW, Loo YH, Fulton TR. Neuropathology of phenylacetate poisoning in rats: an experimental model of phenylketonuria. Ann Neurol 1980 Jun;7(6):557-66. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7192068&dopt;=Abstract

Wendel U, Hummel W, Langenbeck U. Monitoring of phenylketonuria: a colorimetric method for the determination of plasma phenylalanine using L-phenylalanine dehydrogenase. Anal Biochem 1989 Jul;180(1):91-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2817348&dopt;=Abstract

Wendel U, Langenbeck U. Towards self-monitoring and self-treatment in phenylketonuria--a way to better diet compliance. Eur J Pediatr 1996 Jul;155 Suppl 1:S105-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8828623&dopt;=Abstract

Williams JM, Morris JG, Rogers QR. Phenylalanine requirement of kittens and the sparing effect of tyrosine. J Nutr 1987 Jun;117(6):1102-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3598720&dopt;=Abstract

Williams K. Benefits of normalizing plasma phenylalanine: impact on behaviour and health. A case report. J Inherit Metab Dis 1998 Dec;21(8):785-90. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9870203&dopt;=Abstract

Williamson M, Dobson JC, Koch R. Collaborative study of children treated for phenylketonuria: study design. Pediatrics 1977 Dec;60(6):815-21. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=600593&dopt;=Abstract

Woo SL, Gillam SS, Woolf LI. The isolation and properties of phenylalanine hydroxylase from human liver. Biochem J 1974 Jun;139(3):741-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4854919&dopt;=Abstract

Woodring JH, Rosenbaum HD. Bone changes in phenylketonuria reassessed. AJR Am J Roentgenol 1981 Aug;137(2):241-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6789628&dopt;=Abstract

Woolf LI, Crockett DJ. Birth weight in phenylketonuria [letter]. Arch Dis Child 1995 Sep;73(3):276. Comment on: Arch Dis Child 1994 Aug;71(2):114-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7492180&dopt;=Abstract

Woolf LI, Crockett DJ. Reduction in birth weight in phenylketonuria [letter]. Eur J Pediatr 1997 Feb;156(2):157. Comment on: Eur J Pediatr 1995 Oct;154(10):847-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9039525&dopt;=Abstract

Yamamoto Y, Makita K, Muramatsu K. Self-selection of phenylalanine in the rat. J Nutr Sci Vitaminol (Tokyo) 1984 Jun;30(3):273-83. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6491773&dopt;=Abstract

Yamamoto Y, Suzuki T, Muramatsu K. Effects of high dietary phenylalanine and p-chlorophenylalanine (Para-chlorophenylalanine) treatment on phenylalanine metabolism in the rat (Amino acid balance). Agric Biol Chem 1982 Oct;46(10):2491-7.

Yang SI, Furuse M, Sugishita N, Okumura J. Effect of phenylalanine on pancreatic amylase secretion in chicks (Gallus domesticus). Comp Biochem Physiol A Comp Physiol 1990;97(4):531-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1704824&dopt;=Abstract

Yoneyama T, Hatakeyama K. Decameric GTP cyclohydrolase I forms complexes with two pentameric GTP cyclohydrolase I feedback regulatory proteins in the presence of phenylalanine or of a combination of tetrahydrobiopterin and GTP. J Biol Chem 1998 Aug 7;273(32):20102-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9685352&dopt;=Abstract

Zello GA, Pencharz PB, Ball RO. Phenylalanine flux, oxidation, and conversion to tyrosine in humans studied with L-[1-13C]phenylalanine. Am J Physiol 1990 Dec;259(6 Pt 1):E835-43. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2260651&dopt;=Abstract

Zeman J, Bayer M, Stepan J. Bone mineral density in patients with phenylketonuria. Acta Paediatr 1999 Dec;88(12):1348-51. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10626520&dopt;=Abstract

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Metabolism, Enzymology, and Biochemistry

Abita JP, Blandin-Savoja F, Rey F. Phenylalanine 4-monooxygenase from human liver. Methods Enzymol 1987;142:27-35. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3298976&dopt;=Abstract

Abita JP, Blandin-Savoja F, Rey F. Phenylalanine hydroxylase. Evidence that the enzyme from human liver might not be a phosphoprotein. Biochem Int 1983 Dec;7(6):727-37. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6679751&dopt;=Abstract

Abita JP, Chamras H, Rosselin G, Rey F. Hormonal control of phenylalanine hydroxylase activity in isolated rat hepatocytes. Biochem Biophys Res Commun 1980 Feb 12;92(3):912-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6244820&dopt;=Abstract

Abita JP, Parniak M, Kaufman S. The activation of rat liver phenylalanine hydroxylase by limited proteolysis, lysolecithin, and tocopherol phosphate. Changes in conformation and catalytic properties. J Biol Chem 1984 Dec 10;259(23):14560-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6501308&dopt;=Abstract

Acosta PB, Alfin-Slater RB, Koch R. Serum lipids in children with phenylketonuria (PKU). J Am Diet Assoc 1973 Dec;63(6):631-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4752061&dopt;=Abstract

Acosta PB, Fernhoff PM, Warshaw HS, Hambidge KM, Ernest A, McCabe ER, Elsas LJ 2d. Zinc and copper status of treated children with phenylketonuria. JPEN J Parenter Enteral Nutr 1981 Sep-Oct;5(5):406-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7198157&dopt;=Abstract

Acosta PB, Trahms C, Wellman NS, Williamson M. Phenylalanine intakes of 1- to 6-year-old children with phenylketonuria undergoing therapy. Am J Clin Nutr 1983 Nov;38(5):694-700. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6637861&dopt;=Abstract

Acosta PB, Wenz E, Williamson M. Nutrient intake of treated infants with phenylketonuria. Am J Clin Nutr 1977 Feb;30(2):198-208. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=835506&dopt;=Abstract

Acosta PB, Yannicelli S. Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria. Biol Trace Elem Res 1999 Jan;67(1):75-84. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10065600&dopt;=Abstract

Adler C, Ghisla S, Rebrin I, Heizmann CW, Blau N, Curtius HC. Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. J Inherit Metab Dis 1992;15(3):405-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1405480&dopt;=Abstract

Agostoni C, Marangoni F, Riva E, Giovannini M, Galli C. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997 Mar;56(3):219-22. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9089802&dopt;=Abstract

al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. J Child Neurol 1992 Apr;7 Suppl:S26-30. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1588012&dopt;=Abstract

Al-Janabi JM. Purification of rat liver phenylalanine hydroxylase by affinity chromatography. Arch Biochem Biophys 1980 Apr 1;200(2):603-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7436425&dopt;=Abstract

Allen JR, McCauley JC, Waters DL, O'Connor J, Roberts DC, Gaskin KJ. Resting energy expenditure in children with phenylketonuria. Am J Clin Nutr 1995 Oct;62(4):797-801. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7572712&dopt;=Abstract

Andersson HC, Kohn LD, Bernardini I, Blom HJ, Tietze F, Gahl WA. Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h. J Biol Chem 1990 Jul 5;265(19):10950-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2358448&dopt;=Abstract

Annual meeting of the Society for the Study of Inborn Errors of Metabolism. Liverpool, 3-6 September 1985. J Inherit Metab Dis 1986;9 Suppl 2:157-335. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3095584&dopt;=Abstract

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Psychology, Neuropsychology, Sociology, and Behavior

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Cabral A, Portela R, Tasso T, Eusebio F, Guilherme A, Lorga L, De Almeida IT, Silveira C, Levy ML. [Phenylketonuria--physical and mental development of phenylketonuric children subjected to early treatment]. Acta Med Port 1989 Jan-Feb;2(1):1-5. (Por). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2773674&dopt;=Abstract

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Nutrition, Diet, and Diet Therapy

Abdallah RM, Starkey JR, Meadows GG. Dietary restriction of tyrosine and phenylalanine: inhibition of metastasis of three rodent tumors. J Natl Cancer Inst 1987 Apr;78(4):759-69. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3470551&dopt;=Abstract

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Acosta PB, Wenz E. Diet management of PKU for infants and preschool children. Rockville (MD): Department of Health, Education, and Welfare (US), Public Health Service, Health Services Administration, Bureau of Community Health Services; 1977. 30 p. (DHEW publication: no. (HSA) 77-5209).

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Acosta PB, Yannicelli S, Marriage B, Steiner R, Gaffield B, Arnold G, Lewis V, Cho S, Berstein L, Parton P, Leslie N, Korson M. Protein status of infants with phenylketonuria undergoing nutrition management. J Am Coll Nutr 1999 Apr;18(2):102-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=10204824&dopt;=Abstract

Agostoni C, Riva E, Biasucci G, Luotti D, Bruzzese MG, Marangoni F, Giovannini M. The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children. Prostaglandins Leukot Essent Fatty Acids 1995 Dec;53(6):401-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8821120&dopt;=Abstract

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Ambrus CM, Anthone S, Horvath C, Kalghatgi K, Lele AS, Eapen G, Ambrus JL, Ryan AJ, Li P. Extracorporeal enzyme reactors for depletion of phenylalanine in phenylketonuria. Ann Intern Med 1987 Apr;106(4):531-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3826953&dopt;=Abstract

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Ambulatory nutrition care: pregnant women. J Am Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

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Anderson K, Acosta PB, Kennedy B. Osmolality of enteral formulas for maternal phenylketonuria. J Inherit Metab Dis 1986;9(1):39-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3088324&dopt;=Abstract

Anderson K, Kennedy B, Acosta PB. Computer-implemented nutrition support of phenylketonuria. J Am Diet Assoc 1985 Dec;85(12):1623-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4067157&dopt;=Abstract

Archer LA, Cunningham CE, Whelan DT. Coping with dietary therapy in phenylketonuria: A case report. Can J Behav Sci 1988 Oct;20(4):461-6.

Arnau J, Guerrero L, Hortos M, Garcia-Regueiro JA. The composition of white film and white crystals found in dry-cured hams. J Sci Food Agric 1996 Apr;70(4):449-52.

Backus RC, Howard KA, Rogers QR. The potency of dietary amino acids in elevating plasma cholecystokinin immunoreactivity in cats is related to amino acid hydrophobicity. Regul Pept 1997 Sep 26;72(1):31-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9404730&dopt;=Abstract

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Drug Therapy

Ali BH, Al-Qarawi AA, Mousa HM, Bashir AK, Tanira MOM, Patel M, Bayoumi R. Concentration of amino acids in brains of mice treated with the traditional medicinal plant Rhazya stricta decne. Indian J Pharmacol 2000;32(3):253-4.

Bourget L, Chang TM. Phenylalanine ammonia-lyase immobilized in semipermeable microcapsules for enzyme replacement in phenylketonuria. FEBS Lett 1985 Jan 21;180(1):5-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4038490&dopt;=Abstract

Levy HL. Treatment of phenylketonuria. Prog Clin Biol Res 1979;34:171-82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=531051&dopt;=Abstract

Muntau AC, Beblo S, Koletzko B. [Phenylketonuria and hyperphenylalaninemia]. Monatsschr Kinderheilkd 2000;148(2):179-93. (Ger).

Tracking at-risk school children with PKU, galactosemia. Tex Nurs 1995 May;69(5):9-10.

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Other Therapies and Therapy in General

Collaborative Study of Children Treated for Phenylketonuria. Management of newborn infants with phenylketonuria. [Rockville (MD)]: Department of Health, Education, and Welfare (US), Public Health Service, Health Services Administration, Bureau of Community Health Services; 1978. 35 p. (DHEW publication; no. (HSA) 78-5211).

Eisensmith RC, Kuzmin AI, Krougliak VA. Prospects for the treatment of phenylketonuria by gene therapy. Ment Retard Dev Disabil Res Rev 1999;5(2):136-43.

Farriaux JP. [The newborn infant of a mother with phenylketonuria. A new challenge]. Arch Fr Pediatr 1989 Mar;46(3):163-5. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2735805&dopt;=Abstract

Kaufman S. Phenylketonuria and its variants. Adv Hum Genet 1983;13:217-97. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6362361&dopt;=Abstract

Ledley FD. Somatic gene therapy for human disease: a problem of eugenics? Trends Genet 1987 Apr;3(4):112-5.

Ledley FD, Woo SLC. Prospects for somatic gene therapy of phenylketonuria. UCLA Symp Mol Cell Biol 1987;55:565-79.

Lines D, Magarey A, Raymond J, Robertson E. Tyrosine supplementation in phenylketonuria [letter]. J Paediatr Child Health 1997 Apr;33(2):177. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9235045&dopt;=Abstract

Powledge TM. Commerce and the future of gene transfer. In: Milunsky A, Annas GJ, editors. Genetics and the law III. New York: Plenum Press; 1985. p. 75-9.

Safos SK. Phenylketonuria: enzyme replacement therapy using phenylalanine ammonia-lyase [masters thesis]. Montreal (Canada): McGill University; 1996. 148 p.

Schuett VE. National survey of treatment programs for PKU and selected other inherited metabolic diseases. [Rockville (MD)]: Department of Health and Human Services (US), Public Health Service, Health Resources and Services Administration, Bureau of Maternal and Child Health and Resources Development, Office of Maternal and Child Health; 1990. 83 p. (DHHS publication; no. HRS-M-CH-89-5).

Simpson D. Phenylketonuria. Midwives Chron 1989 Feb;102(1213):37-41. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2704313&dopt;=Abstract

Snyderman SE. Treatment of phenylketonuria [letter]. Am J Clin Nutr 1998 Dec;68(6):1304-6. Comment on: Am J Clin Nutr 1998 Mar;67(3):357-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9846864&dopt;=Abstract

Vajro P, Strisciuglio P, Houssin D, Huault G, Laurent J, Alvarez F, Bernard O. Correction of phenylketonuria after liver transplantation in a child with cirrhosis [letter]. N Engl J Med 1993 Jul 29;329(5):363. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8321274&dopt;=Abstract

Wapnir RA. L-tryptophan in maternal phenylketonuria [letter]. Am J Clin Nutr 1998 Dec;68(6):1306-7. Comment on: Am J Clin Nutr 1998 Mar;67(3):473-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=9846865&dopt;=Abstract

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Maternal PKU

Ambulatory Nutrition Care: pregnant women. J Am Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

Beaudette T, editor. Maternal nutritional status: effect on pregnancy outcome. Semin Nutr 1989 Mar-Apr;8(4):[24 p.].

Bessman SP. Phenylketonuria--a genetic intrauterine nutritional deficiency. Nutr MD 1992 Jan;18(1):5.

Boyce RA. The dietetic implications of maternal phenylketonuria. Aust J Nutr Diet 1991 Sep;48(3):82-8.

Brenton DP. Maternal phenylketonuria. Eur J Clin Nutr 1989;43 Suppl 1:13-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2689161&dopt;=Abstract

Brodie M. Maternal phenylketonuria: an Arkansas experience. Top Clin Nutr 1992 Dec;8(1):39-44.

Caldwell J. Maternal PKU -- a new threat to the unborn... a major cause of new cases of mental retardation. Am-Baby Prenatal Ed 1981 Oct;43:16 passim.

Chung S. The effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring [dissertation]. Tucson: The University of Arizona; 1999. 74 p.

Cohen BE, Weiss R, Hadar R, Normand M, Shiloh S, Elhanati D. Group work with adolescent PKU girls and their mothers. J Inherit Metab Dis 1988;11(2):199-206. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3139933&dopt;=Abstract

Cowie V. The effect of the environment... can put fetuses at risk of mental subnormality. Nurs Mirror 1982 Sep 15;155(11):34-6.

Davidson DC. Maternal phenylketonuria. Postgrad Med J 1989;65 Suppl 2:S10-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2622813&dopt;=Abstract

Friedman JF. Low protein food products: A cornerstone in the management of PKU. Top Clin Nutr 1992 Dec;8(1):72-6.

Gibbings B. Phenylketonuria--a personal view. Mod Midwife 1994 Oct;4(10):27. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=7874528&dopt;=Abstract

Gurry DL, Rae AI, Walters BN. Maternal PKU in Western Australia - a small controlled trial. In: Wilcken B, Webster D, editors. Neonatal screening in the nineties. Proceedings of the 8th International Neonatal Screening Symposium; 1991 Nov 12-15; Leura, New South Wales, Australia and the Arthur Veale Memorial Meeting; 1991 Nov 5-9; Auckland, New Zealand. Australia: The Symposium; 1991. p. 324-6.

Guttler F. The Scandinavian maternal PKU collaborative study. In: Wilcken B, Webster D, editors. Neonatal screening in the nineties. Proceedings of the 8th International Neonatal Screening Symposium; 1991 Nov 12-15; Leura, New South Wales, Australia and the Arthur Veale Memorial Meeting; 1991 Nov 5-9; Auckland, New Zealand. Australia: The Symposium; 1991. p. 323.

Hanulak AT, Hull EM. Behavioral deficits in a rat model of maternal PKU. Psychobiology 1987 Mar;15(1):75-8.

Henderson RA. PKU and maternal PKU: the cure and the problem. B C J Spec Ed 1989;13(3):253-7.

Hersh JH, Podruch PE, Rogers G, Weisskopf B. Toluene embryopathy. J Pediatr 1985 Jun;106(6):922-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4039753&dopt;=Abstract

Koch R. Maternal PKU: a crisis on the horizon [videocassette]. Boston (MA): Fanlight Productions; [1995]. 1 videocassette: 28 min., sound, color, 1/2 in.

Koch R, Friedman EG, Azen C. The North American Maternal PKU Collaborative Study. In: Wilcken B, Webster D, editors. Neonatal screening in the nineties. Proceedings of the 8th International Neonatal Screening Symposium; 1991 Nov 12-15; Leura, New South Wales, Australia and the Arthur Veale Memorial Meeting; 1991 Nov 5-9; Auckland, New Zealand. Australia: The Symposium; 1991. p. 320-2.

Koch R, Jew K, Wenz E, Shaw KN, Crowley C, Fishler K, Lenke R, Platt L, Oizumi J. Maternal phenylketonuria (PKU). In: Naruse H, Irie M, editors. Neonatal screening. Proceedings of the 2nd International Conference on Neonatal Thyroid Screening; 1982 Aug 16-19; Tokyo and the International Symposium on Neonatal Screening for Inborn Errors of Metabolism;1982 Aug 19-21; Tokyo. Princeton (NJ): Excerpta Medica; 1983. p. 241-2. (International congress series; no. 606).

Krywawych S, Haseler M, Brenton DP. Theoretical and practical aspects of preventing fetal damage in women with phenylketonuria. Nestle Nutr Workshop Ser 1991;24:125-35.

Kyu H, Thu A, Cook PJ. Human genetics in Burma. Hum Hered 1981;31(5):291-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6460683&dopt;=Abstract

Lacey DJ. Cortical dendritic spine loss in rat pups whose mothers were prenatally injected with phenylacetate ('maternal PKU' model). Brain Res 1986 Jun;392(1-2):283-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3708382&dopt;=Abstract

Lajtha A, Reilly MA, Dunlop DS. Aspartame consumption: lack of effects on neural function. J Nutr Biochem 1994 Jun;5(6):266-83.

Levy HL. Maternal phenylketonuria. Prog Clin Biol Res 1988;281:227-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3051035&dopt;=Abstract

Levy HL. Maternal phenylketonuria. In: Schmidt BJ, Diament AJ, Loghin-Grosso NS, editors. Current trends in infant screening. Proceedings of the 7th International Screening Symposium; 1988 Nov 6-9; Sao Paulo, Brazil. New York: Excerpta Medica; 1989. p. 55-62. (International congress series; no. 848).

Levy HL. Maternal PKU. Prog Clin Biol Res 1985;177:109-22. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=4011601&dopt;=Abstract

Levy HL. Treatment of phenylketonuria. Prog Clin Biol Res 1979;34:171-82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=531051&dopt;=Abstract

Levy HL, Lenke RR, Crocker AC, editors. Maternal PKU. Proceedings of a conference; 1979 Dec 5; Boston. Rockville (MD): Department of Health and Human Services (US), Health Services Administration; 1982. 90 p. (DHHS publication; no. (HSA) 81-5299).

Levy HL, Lobbregt D, Platt LD, Benacerraf BR. Fetal ultrasonography in maternal PKU. Prenat Diagn 1996 Jul;16(7):599-604. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8843468&dopt;=Abstract

Levy HL, Waisbren SE. The PKU paradigm: the mixed results from early dietary treatment. UCLA Symp Mol Cell Biol 1987;55:539-51.

Lipson AH. Medications during pregnancy: birth defects and other risks. Healthright 1984 Nov;4(1):15-20.

Loo YH, Rabe A, Potempska A, Wang P, Fersko R, Wisniewski HM. Experimental maternal phenylketonuria: an examination of two animal models. Dev Neurosci 1983-84;6(4-5):227-34. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6240395&dopt;=Abstract

Lott JW. PKU: a nursing update. J Pediatr Nurs 1988 Feb;3(1):29-34. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3339535&dopt;=Abstract

Luke B. Maternal-fetal nutrition. Clin Obstet Gynecol 1994 Mar;37(1):93-109. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8194219&dopt;=Abstract

Luke B, Johnson TR, Petrie RH. Clinical maternal-fetal nutrition. New York: Little, Brown; 1993. Maternal phenylketonuria; p. 251-68.

Marsh J, Sargent E. Factors affecting the duration of postnatal visits. Midwifery 1991 Dec;7(4):177-82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1779871&dopt;=Abstract

Messer SS. PKU: a mother's perspective. Pediatr Nurs 1985 Mar-Apr;11(2):121-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=3845441&dopt;=Abstract

Oura T, Hase Y. Japanese experiences in maternal phenylketonuria. In: Naruse H, Irie M, editors. Neonatal screening. Proceedings of the 2nd International Conference on Neonatal Thyroid Screening; 1982 Aug 16-19; Tokyo and the International Symposium on Neonatal Screening for Inborn Errors of Metabolism; 1982 Aug 19-21; Tokyo. Princeton (NJ): Excerpta Medica; 1983. p. 235-40. (International congress series; no. 606).

Persha AJ. Early identification and prevention of mental retardation. ICCW News B 1992 Jan-Mar;40(1):9-12.

Roux C, Rey F, Lyonnet S, Nizard S, Mulliez N, Munnich A. An animal model for maternal phenylketonuria. J Med Genet 1991 Oct;28(10):718-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1941970&dopt;=Abstract

Shaw D, Macleod PM, Applegarth DA. Recurrent abortion and amino-acid abnormalities. J Inherit Metab Dis 1991;14(5):851. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=1779644&dopt;=Abstract

Shiloh S, Waisbren SE, Cohen BE, St James P, et al. Cross-cultural perspectives on coping with the risks of maternal phenylketonuria. Psychol Health 1993 Dec;8(6):435-46.

Shiloh S, Waisbren SE, Levy HL. A psychosocial model of a medical problem: Maternal phenylketonuria. J Prim Prev 1989 Fall;10(1):51-62.

St James PS. The resource mothers program for maternal PKU: an ecological to intervention and program evaluation [dissertation]. Boston: University of Massachusetts; 1996. 216 p.

Sturtevant FM. Use of aspartame in pregnancy. Int J Fertil 1985;30(1):85-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=2862125&dopt;=Abstract

Volpe EP. Patient in the womb. Macon (GA): Mercer University Press; 1984. 157 p.

Waisbren SE. Developmental and neuropsychological outcome in children born to mothers with phenylketonuria. Ment Retard Dev Disabil Res Rev 1999;5(2):125-31.

Wallman CM. Lab values and diagnostics. Newborn genetic screening. Neonat Netw 1998 Apr;17(3):55-60, 22-4.

Wenz E. Aspartame and PKU [letter]. J Am Diet Assoc 1984 Jan;84(1):101. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=6690561&dopt;=Abstract

Whitehead H, Holmes J, Roberts R, al-Mandhari NA, Greer A, Thom R, Donnelly P, Carson D, Traub AI, Hadden D. Maternal phenylketonuria 1987 to 1993, pregnancy outcome and early infant development: the Northern Ireland experience. Br J Obstet Gynaecol 1996 Oct;103(10):1041-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db;=PubMed&list;_uids=8863706&dopt;=Abstract