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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Publié dans:	J Clin Invest
Auteurs principaux:	Oftebro, H, Björkhem, I, Skrede, S, Schreiner, A, Pederson, J I
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1980
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC371480/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7410549/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI109806
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