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- W2182709445 abstract "Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5a-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile. Clinically, progressive neurologic dysfunction, tendon xanthomas, cataracts, and atherosclerosis are commonly found. Because chenodeoxycholic acid, a primary bile acid, is almost devoid from the bile, replacement therapy (750 mg per day) suppresses abnormal bile acid synthesis, reduces elevated cholestanol synthesis and plasma concentrations, and improves neurologic function in this disease." @default.
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- W2182709445 date "2006-06-01" @default.
- W2182709445 modified "2023-10-04" @default.
- W2182709445 title "CEREBROTENDINOUS XANTHOMATOSIS" @default.
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- W2182709445 doi "https://doi.org/10.2106/00004623-200606000-00024" @default.
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