Associated Papers
Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
Hudson J et al.
American Journal of Medical Genetics. Part A, 2025
Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
Zhang MH et al.
World Journal of Gastroenterology, 2019
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH et al.
World Journal of Gastroenterology, 2018
In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
Chen M et al.
Biochemistry, 2015
Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.
Zhao J et al.
World Journal of Gastroenterology, 2012
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