Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0963-1
Reference24 articles.
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2. Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311: 1649–1652.
3. Cali JJ, Hsieh CL, Francke U, et al (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266: 7779–7783.
4. Carlson TL, Kottke BA (1989) Effect of 25-hydroxycholesterol and bile acids on the regulation of cholesterol metabolism in Hep G2 cells. Biochem J 264: 241–247.
5. Hoshita T, Yasuhara M, Une M, et al (1980) Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis. J Lipid Res 21: 1015–1021.
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