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Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. Setchell KD, et al. Gastroenterology. 2013 May;144(5):945-955.e6; quiz e14-5. doi: 10.1053/j.gastro.2013.02.004. Epub 2013 Feb 13. Gastroenterology. 2013. PMID: 23415802 Free PMC article.
Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase deficiency.
Gioiello A, Cerra B, Zhang W, Vallerini GP, Costantino G, De Franco F, Passeri D, Pellicciari R, Setchell KD. Gioiello A, et al. Among authors: setchell kd. J Steroid Biochem Mol Biol. 2014 Oct;144 Pt B:348-60. doi: 10.1016/j.jsbmb.2014.06.008. Epub 2014 Jun 19. J Steroid Biochem Mol Biol. 2014. PMID: 24954360
Treatment of bile acid amidation defects with glycocholic acid.
Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D. Heubi JE, et al. Among authors: setchell kd. Hepatology. 2015 Jan;61(1):268-74. doi: 10.1002/hep.27401. Epub 2014 Dec 23. Hepatology. 2015. PMID: 25163551 Free PMC article.
352 results