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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
∆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
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ et al.
International Journal of Molecular Sciences, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis.
Yanagi T et al.
Clinical Endocrinology, 2015
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
Genetic variation in aldo-keto reductase 1D1 (AKR1D1) affects the expression and activity of multiple cytochrome P450s.
Chaudhry AS et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2013
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
Seki Y et al.
Journal of Inherited Metabolic Disease, 2013
Disorders of bile acid synthesis.
Clayton PT
Journal of Inherited Metabolic Disease, 2011
The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function.
Mindnich R et al.
Chemico-biological Interactions, 2011
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
Drury JE et al.
The Journal of Biological Chemistry, 2010
Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.
Di Costanzo L et al.
The Journal of Biological Chemistry, 2008
SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
Gonzales E et al.
Journal of Hepatology, 2004