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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. Among authors: setchell kd. 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.
Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.
Zhang W, Jha P, Wolfe B, Gioiello A, Pellicciari R, Wang J, Heubi J, Setchell KD. Zhang W, et al. Among authors: setchell kd. Clin Chem. 2015 Jul;61(7):955-63. doi: 10.1373/clinchem.2015.238238. Epub 2015 Apr 30. Clin Chem. 2015. PMID: 25931455
Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE. Heubi JE, et al. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266156 Review.
363 results