Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neuroradiological study

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +7

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 · 499 citations · Full text

Oxysterol, Hepatology, Biochemistry +14

Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid

Vladimir M. Berginer, Gerald Salen, Sarah Shefer · New England Journal of Medicine · 1984 · 384 citations

Peripheral Neuropathy, Alzheimer's Disease, Corticobasal Degeneration +14

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 · 228 citations · Full text

Pathology, Cerebrotendinous Xanthomatosis, Cholic Acid +19