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LetterToEditor Article

The levels of cholestanol in cultured skin fibroblasts from patients with cerebrotendinous xanthomatosis are normal

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Pages 505-506 | Received 19 Feb 1987, Accepted 19 Feb 1987, Published online: 17 Mar 2010

References

  • Salen G, Shefer S, Berginer V M. Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and sitosterolemia and xanthomatosis. The Metabolic Basis of Inherited Disease, 5th edn, J R Stanbury, J B Wyngaarden, D S Fredrickson, J L Goldstein, M S Brown. McGraw-Hill, New York 1983; 713–30
  • Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med 1971; 75: 843–51
  • Skrede S, Björkhem I, Kvittingen E A, Buchmann M S, East C, Grundy S. Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this in cerebrotendinous xanthomatosis. J Clin Invest 1986; 78: 729–35
  • Barron J L. Cerebrotendinous xanthomatosis. N Engl J Med 1985; 313(7)455
  • Barron J L, Maxwell U, Rutherfoord G S. Cerebrotendinous xanthomatosis: a defect in cellular biosynthetic control. J Inhert Metab Dis 1982; 5: 91–3
  • Serizawa S, Otsuka H, Seyama Y, Yamakawa T. Studies on the biosynthesis of cholestanol and cultured cells. J Biochem 1982; 92: 1547–57
  • Salen S, Polito A. Biosynthesis of 5α-cholestane-3β-ol in cerebrotendinous xanthomatosis. J Clin Invest 1972; 51: 134
  • Skrede S, Björkhem I, Buchmann M S, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7α-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. J Clin Invest 1985; 75: 448–55
  • Tint G S, Salen G. Biosynthesis of cholesterol, lanosterol, and Δ7-cholestenol, but not cholestanol in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis. J Lipid Res 1982; 23: 597–603

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