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  • Title: Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control.
    Author: Barron JL, Maxwell JU, Rutherfoord GS.
    Journal: J Inherit Metab Dis; 1982; 5(2):91-3. PubMed ID: 6820431.
    Abstract:
    A 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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