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Mutations in SRD5B1 (AKR1D1), the gene encoding Δ(4)-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy

Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7α-hydroxy-3-oxo-4-cholenoic acid and 7α,12α-dihydroxy-3-oxo-4-cholenoic acid. It has been proposed that some (but not all) of these h...

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Bibliografiset tiedot
Päätekijät: Lemonde, H A, Custard, E J, Bouquet, J, Duran, M, Overmars, H, Scambler, P J, Clayton, P T
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Copyright 2003 by Gut 2003
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1773813/
https://ncbi.nlm.nih.gov/pubmed/12970144
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