SRD5B1 (AKR1D1) gene analysis in Δ4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect
Open Access
- 1 April 2004
- journal article
- other
- Published by Elsevier in Journal of Hepatology
- Vol. 40 (4) , 716-718
- https://doi.org/10.1016/j.jhep.2003.12.024
Abstract
No abstract availableKeywords
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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.Journal of Clinical Investigation, 1988
- 3-OXO-Δ4 BILE ACIDS IN LIVER DISEASEThe Lancet, 1988