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The UCSF-Stanford Lysosomal Disease Center provides complete services, including consultation, examination, testing, diagnosis, treatment, and genetic counseling, for patients with lysosomal diseases and their families. These inherited diseases are caused by problems in the lysosomes, compartments in the body's cells that contain enzymes (chemicals that break down other substances). When a particular enzyme is missing or present in only a small amount, various substances are able to build up in the lysosomes. This abnormal build-up, or storage, causes the symptoms of the different lysosomal diseases. Treatment is currently available for Gaucher disease, Fabry disease and Hurler syndrome. The Center is dedicated to the diagnosis and management of these rare diseases and provides coordinated care by specialists in all areas of medicine. Through the Center, caregivers, patients, and their families will have access to experts from the two major university medical centers in Northern California: UCSF and Stanford. We are available for talks and other educational programs. We also have written information about lysosomal diseases, including Gaucher disease, Fabry disease, Hurler syndrome, Pompe disease, and Niemann-Pick disease. To speak with someone about an educational program, or to have written information sent to you, please contact us:
*The Center is supported in part by: Genzyme Corporation, Mead Johnson Nutritionals, the UCSF Pediatric Clinical Research Center, the State of California Genetic Disease Branch, and the Niemann-Pick Foundation. |
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