53 studies were found. Here are studies 1 to 50.

1.		Recruiting	Study of Treatment and Metabolism in Patients With Urea Cycle Disorders Condition: Amino Acid Metabolism, Inborn Errors
2.		Recruiting	Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders Conditions: Metabolism, Inborn Errors; Granulomatous Disease, Chronic
3.		Recruiting	An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated with Sitosterolemia Conditions: Lipid Metabolism, Inborn Errors; Heart Disease
4.		Recruiting	Pilot Study of Allogeneic Bone Marrow Transplantation Plus Cyclosporine and Mycophenolate Mofetil to Induce Mixed Hematopoietic Chimerism in Patients With Primary T-Cell Immunodeficiency Disorders Conditions: Purine-Pyrimidine Metabolism, Inborn Errors; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Lymphopenia; Job's Syndrome; DiGeorge Syndrome; ...
5.		Recruiting	Study of Smith-Lemli-Opitz Syndrome Conditions: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome
6.		Recruiting	Study of Alkaptonuria Condition: Alkaptonuria
7.		Recruiting	Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Mucopolysaccharidosis I (Hurler Disease) Condition: Mucopolysaccharidosis I
8.		Recruiting	Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism Conditions: Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders
9.		Recruiting	Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients with Gaucher's Disease Conditions: Gaucher's Disease; Osteopenia
10.		Recruiting	Study of NTBC for Tyrosinemia I Condition: tyrosinemia I
11.		Not yet recruiting	Study of Bile Acids in Patients With Peroxisomal Disorders Conditions: Infantile Refsum's Disease; Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy
12.		Recruiting	Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children with Adrenoleukodystrophy Condition: Adrenoleukodystrophy
13.		Recruiting	Study of the Metabolism of Pyruvate and Related Problems in Patients with Lactic Acidemia Conditions: Mitochondrial Myopathy; MELAS Syndrome; Lactic Acidosis
14.		Recruiting	Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis Condition: Cerebrotendinous Xanthomatosis
15.		Recruiting	Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Condition: Gaucher's Disease
16.		Recruiting	Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Conditions: Albinism; Intestinal Disease; Kidney Disease; Myocardial Disease; Pulmonary Fibrosis
17.		Recruiting	Replagal Enzyme Replacement Therapy for Children with Fabry Disease Condition: Fabry Disease
18.		Recruiting	A Study of Persons with Gout who Do Not Respond to or Are Allergic to Conventional Therapy Condition: Gout
19.		Recruiting	Implitapide in Patients with Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy Condition: Familial Hypercholesterolemia
20.		Recruiting	Implitapide in Patients with Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy Condition: Familial Hypercholesterolemia
21.		Recruiting	A Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Conditions: Glucosephosphate Dehydrogenase Deficiency; Favism
22.		Recruiting	Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Condition: Fabry Disease
23.		Recruiting	Expanded access use of Myozyme (alglucosidase alfa) in patients with infantile-onset Pompe disease Conditions: Glycogen Storage Disease Type II; Glycogenosis 2
24.		Recruiting	Kidney Transplantation in Patients with Cystinosis Condition: Cystinosis
25.		Recruiting	The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Conditions: Pseudotumor Cerebri; Cystinosis
26.		Recruiting	An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years with Fabry Disease Condition: Fabry Disease
27.		Recruiting	Prenatal Screening For Smith-Lemli-Opitz Syndrome Conditions: Smith-Lemli-Opitz Syndrome; Pregnancy
28.		Recruiting	Cardiac Function in Patients with Hereditary Hemochromatosis Condition: Hemochromatosis
29.		Recruiting	Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients with MPS VI Condition: Mucopolysaccharidosis VI
30.		Recruiting	Registry of Fabry Disease - A Multicenter Observational Study Condition: Fabry Disease
31.		Recruiting	Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Condition: Lipoidosis
32.		Recruiting	OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients with Neuronopathic Gaucher Disease Condition: Gaucher Disease
33.		Recruiting	Nervous System Degeneration in Glycosphingolipid Storage Disorders Conditions: Gangliosidoses; Gaucher Disease
34.		Recruiting	Cholestanol in Humans Condition: Cerebrotendinous Xanthomatosis
35.		Recruiting	The Natural History and Pathogenesis of Mucolipidosis Type IV Condition: Mucolipidosis Type IV
36.		Recruiting	Catecholamine Reserve and Exercise Tolerance in Healthy Volunteers and Patients with Congenital Adrenal Hyperplasia Conditions: Congenital Adrenal Hyperplasia; Healthy
37.		Recruiting	Treatment of Hemochromatosis Condition: Hemochromatosis
38.		Recruiting	Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients with End Stage Renal Disease Receiving Hemodialysis Conditions: End Stage Renal Disease; Hyperhomocysteinemia
39.		Recruiting	Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Condition: Smith-Lemli-Opitz Syndrome
40.		Recruiting	Magnetic Stimulation of the Human Nervous System Conditions: Demyelinating Disease; Healthy; Lysosomal Storage Disease; Motor Neuron Disease; Movement Disorder
41.		Recruiting	The Classification and Cause of Leukodystrophies of Unknown Cause Condition: Lysosomal Storage Disease
42.		Recruiting	Three Drug Combination Therapy versus Conventional Treatment of Children with Congenital Adrenal Hyperplasia Conditions: Congenital Adrenal Hyperplasia; Growth Disorder
43.		Recruiting	Analysis of the Nervous System in Patients with Fabry's Disease Condition: Fabry's Disease
44.		Recruiting	Effects of Enzyme Replacement in Gaucher's Disease Condition: Gaucher's Disease
45.		Recruiting	Copper Histidine Therapy for Menkes Diseases Condition: Kinky Hair Syndrome
46.		Recruiting	Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Children Conditions: Autoimmune Disease; Congenital Adrenal Hyperplasia; Healthy; Mental Disorder Diagnosed in Childhood; Neurologic Manifestations
47.		Recruiting	Resistance to Vitamin D or Parathyroid Hormone Conditions: Hypocalcemia; Osteomalacia; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Rickets
48.		Recruiting	Genetic Studies of Lysosomal Storage Disorders Conditions: Gaucher's Disease; Lysosomal Storage Disease
49.		Recruiting	Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Condition: Cystinosis
50.		Recruiting	Evaluation of Lipoproteins Conditions: Hyperlipidemia; Hyperlipoproteinemia; Hypolipoproteinemia