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Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control
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AbstractA mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma. This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX). No specific lipoprotein fraction was found to transport cholestanol. For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.
Title: Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control
Description:
AbstractA mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma.
This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX).
No specific lipoprotein fraction was found to transport cholestanol.
For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.
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