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
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Pham AN et al.
Medicine, 2022
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