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
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ et al.
International Journal of Molecular Sciences, 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
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
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