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Items: 10


Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.

Bossi G, Giordano G, Rispoli GA, Maggiore G, Naturale M, Marchetti D, Iascone M.

Pediatr Rep. 2017 Oct 10;9(3):7266. doi: 10.4081/pr.2017.7266. eCollection 2017 Oct 6.


Bile acids: chemistry, physiology, and pathophysiology.

Monte MJ, Marin JJ, Antelo A, Vazquez-Tato J.

World J Gastroenterol. 2009 Feb 21;15(7):804-16. Review.


Mechanisms of disease: Inborn errors of bile acid synthesis.

Sundaram SS, Bove KE, Lovell MA, Sokol RJ.

Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. doi: 10.1038/ncpgasthep1179. Epub 2008 Jun 24. Review.


Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function.

Shea HC, Head DD, Setchell KD, Russell DW.

Proc Natl Acad Sci U S A. 2007 Jul 10;104(28):11526-33. Epub 2007 Jun 29.


Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.

Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA.

Gastroenterology. 2007 Jan;132(1):119-26. Epub 2006 Oct 21.


The molecular genetics of familial intrahepatic cholestasis.

Jansen PL, Müller M.

Gut. 2000 Jul;47(1):1-5. Review. No abstract available.


Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M.

Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7.


Locus heterogeneity in progressive familial intrahepatic cholestasis.

Strautnieks SS, Kagalwalla AF, Tanner MS, Gardiner RM, Thompson RJ.

J Med Genet. 1996 Oct;33(10):833-6.


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