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Title: [Ludo Van Bogaert's cerebro-tendinous xanthomatosis. Apropos of 2 cases]. Author: Pestel M, Bestel B, Rambaud JC, Rautureau M, Canal J, Haye C, Rouffy J. Journal: Ann Med Interne (Paris); 1977; 128(6-7):515-20. PubMed ID: 921107. Abstract: The authors report of two familial cases of Ludo Van Boggert cerebro-tendinous xanthomatosis. Biochemical studies carried out in one of the patients confirmed the work of Salen indicating that the disorder is due to an enzyme problem in the hepatic synthesis of primary bile acids from cholesterol (fault in the production and cholic and chenodesoxycholic acid an an increase in the synthesis of cholestanol).[Abstract] [Full Text] [Related] [New Search]