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Year Number of Results
2000 2
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2010 3
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Page 1
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH. van der Woerd WL, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955958 Review.
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. ...Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result bo …
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and …
Progressive familial intrahepatic cholestasis type 1.
Paulusma CC, Elferink RP, Jansen PL. Paulusma CC, et al. Semin Liver Dis. 2010 May;30(2):117-24. doi: 10.1055/s-0030-1253221. Epub 2010 Apr 26. Semin Liver Dis. 2010. PMID: 20422494 Review.
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the first year of life. ...Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of the dise …
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the first year of …
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ, Boyer JL. Soroka CJ, et al. Mol Aspects Med. 2014 Jun;37:3-14. doi: 10.1016/j.mam.2013.05.001. Epub 2013 May 15. Mol Aspects Med. 2014. PMID: 23685087 Free PMC article. Review.
Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholest …
Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type …
Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
Harris MJ, Le Couteur DG, Arias IM. Harris MJ, et al. J Gastroenterol Hepatol. 2005 Jun;20(6):807-17. doi: 10.1111/j.1440-1746.2005.03743.x. J Gastroenterol Hepatol. 2005. PMID: 15946126 Review.
Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spontaneously resolve. These genetic disorders have significantly helped to unravel the basic mechanisms of the canalicular bile transport proc …
Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spo …
Genetic cholestasis: lessons from the molecular physiology of bile formation.
Jansen PL, Müller M. Jansen PL, et al. Can J Gastroenterol. 2000 Mar;14(3):233-8. doi: 10.1155/2000/514172. Can J Gastroenterol. 2000. PMID: 10758420 Free article. Review.
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. ...Benign recurrent intrahepatic cholestasis (BRIC) is linked to a mutation in the same familial intrahepatic …
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. .. …
The bile salt export pump (BSEP) in health and disease.
Kubitz R, Dröge C, Stindt J, Weissenberger K, Häussinger D. Kubitz R, et al. Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):536-53. doi: 10.1016/j.clinre.2012.06.006. Epub 2012 Jul 12. Clin Res Hepatol Gastroenterol. 2012. PMID: 22795478 Review.
Mutations of BSEP are associated with cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 2 (PFIC-2), benign recurrent intrahepatic cholestasis type 2 …
Mutations of BSEP are associated with cholestatic liver diseases of varying severity including progressive familial intrahepatic c …
Genetic cholestasis, causes and consequences for hepatobiliary transport.
Jansen PL, Sturm E. Jansen PL, et al. Liver Int. 2003 Oct;23(5):315-22. doi: 10.1034/j.1478-3231.2003.00856.x. Liver Int. 2003. PMID: 14708891 Review.
Mutations in the FIC1 gene cause relapsing or permanent cholestasis. The relapsing type of cholestasis is called benign recurrent intrahepatic cholestasis, the permanent type of cholestasis PFIC type 1. PFIC …
Mutations in the FIC1 gene cause relapsing or permanent cholestasis. The relapsing type of cholestasis is called ben …
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P. Sohail MI, et al. Int J Mol Sci. 2021 Jan 14;22(2):784. doi: 10.3390/ijms22020784. Int J Mol Sci. 2021. PMID: 33466755 Free PMC article. Review.
Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2) and intrahepatic cholestasis of pr …
Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), beni …
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.
Lam P, Soroka CJ, Boyer JL. Lam P, et al. Semin Liver Dis. 2010 May;30(2):125-33. doi: 10.1055/s-0030-1253222. Epub 2010 Apr 26. Semin Liver Dis. 2010. PMID: 20422495 Free PMC article. Review.
In humans, BSEP deficiency results in several different genetic forms of cholestasis, which include progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type …
In humans, BSEP deficiency results in several different genetic forms of cholestasis, which include progressive familial intrahepa …
Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
Colombo C, Okolicsanyi L, Strazzabosco M. Colombo C, et al. Dig Liver Dis. 2000 Mar;32(2):152-9. doi: 10.1016/s1590-8658(00)80403-x. Dig Liver Dis. 2000. PMID: 10975791 Review.
FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, coding for P-type ATPases of unknown physiological function, while a second form (bile salt export pump defective progressive …
FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 …
11 results