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Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… The preconception options include MicroSort which is a technology that can separate sperm containing X chromosomes … of Duchenne Muscular Distrophy Finding Reliable Health Information Online … What is Duchenne muscular dystrophy? … …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Foundation MedlinePlus NINDS Charcot-Marie-Tooth Disease Information Page National Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health Information Online …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… professional to contact the laboratories for further information. The laboratories listed below recently began … 'Research' or 'Testing' icon for the laboratory's contact information. Note: This laboratory does not accept direct … developed by the National Center for Biotechnology Information (NCBI). The language on this page about …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… and Head of the Molecular Neurogenetics Section. Information about Dr. Sidransky's research on Gaucher disease … MedlinePlus: Gaucher disease NINDS Gaucher's Disease Information Page National Gaucher Foundation Gaucher's … Diseases Association [ntsad.org] Finding Reliable Health Information Online A listing of information and links for …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease Crohn's … Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health Information Online … What is Crohn's disease? … What are the …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… make decisions regarding testing. Additional Resources for Information on Hereditary Colon Cancer National Cancer … Institute Colon Cancer Alliance Genetics and Rare Diseases Information Center Familial adenomatous polyposis - Genetics … Colon and Rectum Cancer Finding Reliable Health Information Online … What do we know about heredity and colon …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… is located on chromosome number 19. It contains the information for a protein called LDL receptor that is … Familial Hypercholesterolemia Genetics and Rare Diseases Information Center Finding Reliable Health Information Online … What is familial hypercholesterolemia? … …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… genes. We all have thousands of genes. Genes carry the information the body needs to make proteins, which are the … work as members of health care teams providing information and support to individuals or families who have … Counseling Additional Resources NINDS: Parkinson's Disease Information Page Medline Plus: Parkinson's Disease Genetics …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health Information Online … What is autosomal dominant polycystic …