Atherogenic risk factors in cerebrotendinous xanthomatosis

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

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

Cholestanol Deposition in Cerebrotendinous Xanthomatosis

Gerald Salen · Annals of Internal Medicine · 1971 · 230 citations

Life Sciences, Biochemistry, Endocrinology +17

A new colorimetric method for the determination of plasma lecithin-cholesterol acyltransferase activity

Nagasaki Toshihide, Akanuma Yasuo · Clinica Chimica Acta · 1977 · 152 citations

Life Sciences, Biochemistry, Analytical Chemistry +12

Cholic Acid Biosynthesis

Gerald Salen, Sarah Shefer, F. W. Cheng et al. · Journal of Clinical Investigation · 1979 · 103 citations · Full text

Life Sciences, Biochemistry, Cellular Metabolism +14