SRD5B1 (AKR1D1) gene analysis in Δ4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect
Author:
Publisher
Elsevier BV
Subject
Hepatology
Reference6 articles.
1. Δ4-3 oxosteroid 5ß-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis;Setchell;J Clin Invest,1988
2. 3-oxo-Δ4 bile acids in liver disease;Clayton;Lancet,1988
3. Gene analysis in Δ4-3 oxosteroid 5ß-reductase deficiency;Sumazaki;Lancet,1997
4. Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (Δ4-3-Oxosteroid 5ß-reductase deficiency);Daugherty;Hepatology,1993
5. Genomic organization of a human 5ß-reductase and its pseudogene and substrate selectivity of the expressed enzyme;Charbonneau;Biochim Biophys Acta,2001
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