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Biosynthesis of 5α-Cholestan-3β-ol in Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis is a rare, inherited disease characterized by an extraordinary accumulation of cholestanol in all tissues, xanthomatous deposits in the brain, lungs, and Achilles tendons, premature atherosclerosis, and low plasma cholesterol concentrations. In two patients with the di...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Salen, Gerald, Polito, Alan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1972
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC332938/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4550120/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106783
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