Gaucher's Disease |
Gaucher//'s Disease |
Gaucher's disease (pronounced goʃeɪ) is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lym ...
Wikipedia - [full article]
Resources
- Center for Jewish Genetic Diseases
- ClinicalTrials.gov: Gaucher Disease (National Institutes of Health)
- Diagnosis and Treatment (Center for Jewish Genetic Diseases)
- Gaucher Disease (Center for Jewish Genetic Diseases)
- Gaucher's Disease (Medline Plus)
- Gaucher's Disease (National Institute of Neurological Disorders and Stroke)
- Gaucher's Disease (Mayo Foundation for Medical Education and Research)
- Gaucher's Disease (National Institutes of Health)
- Gaucher's Disease (National Institute of Neurological Diseases and Stroke)
- Gaucher/'s Disease (Cleveland Clinic)
- Gene Testing (Dept. of Energy, Human Genome Project)
- Genes and Disease: Gaucher Disease (National Center for Biotechnology Information)
- Genetic and Rare Conditions Site (University of Kansas, Genetics Education Center) - - organizations and support groups
- Genetics Home Reference: Gaucher disease (Genetics Home Reference)
- Genetics Home Reference: Pseudo-Gaucher disease (Genetics Home Reference)
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- Questions and Answers about Avascular Necrosis (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
- Researching Disease: Dr. Roscoe Brady and Gaucher Disease (Office of the Director)
- Tay-Sachs, Gaucher, and Canavan Disease (American Association for Clinical Chemistry)
- Treating Rare Lysosomal Storage Diseases (Cleveland Clinic)
- Treatment with Enzyme Replacement Therapy Reverses Symptoms in Patients with Type 1 Gaucher's Disease (National Institute of Neurological Disorders and Stroke)
- US Clinic Directory Search (Children's Health Care System, Seattle)

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