Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis

The Metabolic Basis of Inherited Disease

Matthew D. Crawford · Journal of Clinical Pathology · 1983 · 960 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

James J. Cali, C L Hsieh, Uta Francke et al. · Journal of Biological Chemistry · 1991 · 504 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid

Vladimir M. Berginer, Gerald Salen, Sarah Shefer · New England Journal of Medicine · 1984 · 389 citations

Medicine, Neurology, Dementia +10

Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis.

Diane F. Jelinek, S Andersson, Clive A. Slaughter et al. · Journal of Biological Chemistry · 1990 · 367 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.

H Oftebro, Ingemar Björkhem, Steinar Skrede et al. · Journal of Clinical Investigation · 1980 · 230 citations · Full text

Life Sciences, Biochemistry, Cellular Metabolism +16