Associated Papers
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A et al.
Orphanet Journal of Rare Diseases, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency.
Zhao J et al.
The Journal of Molecular Diagnostics : Jmd, 2023
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
Chen JY et al.
Pediatrics and Neonatology, 2020
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