Alpha-1-antitrypsin Deficiency - A Simplified Description Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease. details... Alpha1 Association |
Clinical Features of Shwachman-Diamond Syndrome This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault t details... Shwachman-Diamond America |
Genetic and Rare Conditions: Support Groups & Information Page Professionals, educators, or individuals seeking information on genetic conditions or birth defects can use this directory to locate national and international organizations, or contact a genetic coun details... Educational Institution--Follow the Resource URL for More Information |
Genetics and Disease Prevention: CDC Reports Also available in: Spanish The links at this web site provide access to information designed for medical researchers and health care professionals. Visitors can find current publications and reports on issues related to genetic details... Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention |
Genetics and Neuromuscular Diseases Also available in: Spanish This brochure describes just what a genetic disorder is, and explains how genetic testing and counseling can help people understand how disorders that may affect themselves or their children are inher details... Muscular Dystrophy Association |
Genomics Weekly Update This weekly update provides information about the impact of human genetic research on disease prevention and public health. details... Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention |
Maple Syrup Urine Disease Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death. details... Maple Syrup Urine Diseases Family Support Group |
Progeria Publications and Abstracts This document lists over 100 publications and abstracts related to progeria. details... Progeria Research Foundation, Inc. |
The National MSP ( mucopolysaccharide ) Society Inc. MPS and Mucolipidoses (ML) are rare genetically determined disorders caused by the body's inability to produce certain enzymes. This results in an abnormal deposit of complex sugars in tissues and cel details... National MPS Society, Inc. |