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Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Medicine (Baltimore). 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476.
Medicine (Baltimore). 2022.
PMID: 35758383
Free PMC article.
RATIONALE: Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary delta4-3-oxosteroid 5beta-reductase enzyme. ...In contrast, protracted diagnosis and tre …
RATIONALE: Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo …
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, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH.
Wang HH, et al.
World J Gastroenterol. 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086.
World J Gastroenterol. 2018.
PMID: 30254413
Free PMC article.
Review.
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