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

Oxidation of side chain of 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol was studied in a patient with cerebrotendinous xanthomatosis (CTX) and in control subjects, using various subcellular fractions of liver homogenate and a method based on isotope dilution-mass spectrometry. In the control, 5...

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Bibliografiske detaljer
Main Authors: Oftebro, H, Björkhem, I, Skrede, S, Schreiner, A, Pederson, J I
Format: Artigo
Sprog:Inglês
Udgivet: 1980
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC371480/
https://ncbi.nlm.nih.gov/pubmed/7410549
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