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lipid storage disease |
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lipid storage diseaseAny of a group of relatively rare hereditary disorders of fat metabolism in which enzyme defects cause distinctive types of lipids to accumulate. They include Tay-Sachs disease, Gaucher disease, Niemann-Pick disease, and Fabry disease. Several are untreatable and cause death before age five; others occur in adulthood. lipid storage disease [′lip·əd ‚stȯr·ij di‚zēz] (medicine) Any of various rare diseases characterized by the accumulation of large histiocytes containing lipids throughout reticuloendothelial tissues; examples are Goucher's disease, Niemann-Pick disease, and amaurotic familial idiocy. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| His many accomplishments include the development of an enzyme replacement therapy for a severely debilitating lipid storage disorder known as Gaucher disease, for which he received both the Outstanding and Meritorious Service Medals of the United States Public Health Service. This molecule may be effective in the treatment of Fabry's disease, a multi-systemic, lipid storage disorder caused by a deficiency of this lysosomal enzyme. |
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