Author:
Salen Gerald,Steiner Robert D.
Subject
Genetics(clinical),Genetics
Reference105 articles.
1. Appadurai V, DeBarber A, Chiang PW et al (2015) Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab 116:298–304
2. Ballantyne CM, Vega GL, East C, Richards G, Grundy SM (1987) Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. Metabolism 36:270–276
3. Batta AK, Salen G, Shefer S, Tint GS, Batta M (1987) Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. J Lipid Res 28:1006–1012
4. Batta AK, Salen G, Tint GS (2004) Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis. Metabolism 53:556–562
5. Bavner A, Shafaati M, Hansson M et al (2010) On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. J Lipid Res 51:2722–2730
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