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Δ4-3-Oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis

✍ Scribed by Benjamin L. Shneider; Kenneth D.R. Setchell; Peter F. Whitington; Kathryn A. Neilson; Frederick J. Suchy


Book ID
117164563
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
936 KB
Volume
124
Category
Article
ISSN
1097-6833

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Identical male twins and their brother, cholestatic from birth, with A4-3-oxosteroid 5p-reductase deficiency, were studied by serial liver biopsy. Spectrometry documented defective primary bile acid syn- thesis and markedly increased levels of atypical 0x0 and all0 bile acids in urine and serum. Hep