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Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.

A new inborn error in bile acid synthesis, manifest in identical infant twins as severe intrahepatic cholestasis, is described involving the delta 4-3-oxosteroid 5 beta-reductase catalyzed conversion of the key intermediates, 7 alpha-hydroxy-4-cholesten-3-one and 7 alpha,12 alpha-dihydroxy-4-cholest...

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Detalhes bibliográficos
Main Authors: Setchell, K D, Suchy, F J, Welsh, M B, Zimmer-Nechemias, L, Heubi, J, Balistreri, W F
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC442799/
https://ncbi.nlm.nih.gov/pubmed/3198770
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