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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 3
2003 1
2005 1
2006 1
2010 3
2011 2
2012 3
2013 2
2014 2
2015 1
2018 3
2019 4
2020 4
2021 1
2022 1
2023 1
2024 2

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29 results

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Page 1
Progressive Familial Intrahepatic Cholestasis.
Bull LN, Thompson RJ. Bull LN, et al. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Clin Liver Dis. 2018. PMID: 30266155 Review.
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM. Amirneni S, et al. World J Gastroenterol. 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. World J Gastroenterol. 2020. PMID: 33384548 Free PMC article. Review.
Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic cholestasis (PFIC) is a group of rare diseases caused by autosomal recessive mutations in the genes that encode proteins expressed mainly in …
Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic chole
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. ...
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the
Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects.
Bosma PJ, Wits M, Oude-Elferink RP. Bosma PJ, et al. Int J Mol Sci. 2020 Dec 29;22(1):273. doi: 10.3390/ijms22010273. Int J Mol Sci. 2020. PMID: 33383947 Free PMC article. Review.
Progressive Familial Intrahepatic Cholestasis (PFIC) are inherited severe liver disorders presenting early in life, with high serum bile salt and bilirubin levels. Six types have been reported, two of these are caused by deficiency of an ABC transporte
Progressive Familial Intrahepatic Cholestasis (PFIC) are inherited severe liver disorders presenting early in li
Targeting FXR in Cholestasis.
Keitel V, Dröge C, Häussinger D. Keitel V, et al. Handb Exp Pharmacol. 2019;256:299-324. doi: 10.1007/164_2019_231. Handb Exp Pharmacol. 2019. PMID: 31201556 Review.
Combined deletion of FXR and SHP spontaneously triggers early-onset intrahepatic cholestasis in mice resembling human progressive familial intrahepatic cholestasis (PFIC). Reduced expression levels and activity of FXR have been reported in human choles …
Combined deletion of FXR and SHP spontaneously triggers early-onset intrahepatic cholestasis in mice resembling human progressive
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
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B
Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ. Chen R, et al. Orphanet J Rare Dis. 2022 Dec 22;17(1):445. doi: 10.1186/s13023-022-02597-y. Orphanet J Rare Dis. 2022. PMID: 36550572 Free PMC article. Review.
BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. ...PFIC3 patients with biallelic null variants exhibited earlier onset ages [10.5 (2
BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive diseas …
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.
Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. ...These genetic disorders have significantly helped to unravel the basic mechanisms of the canalicular bile transport processes. Progressive
Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. ...Th
Progressive familial intrahepatic cholestasis: a personal perspective.
Knisely AS. Knisely AS. Pediatr Dev Pathol. 2000 Mar-Apr;3(2):113-25. doi: 10.1007/s100240050016. Pediatr Dev Pathol. 2000. PMID: 10679031 Review.
Progressive familial intrahepatic cholestasis (PFIC), originally described as "Byler disease" in an Amish kindred, has been distinguished from other forms of cholestatic liver disease in childhood by clinical findings, clinical-laboratory observations,
Progressive familial intrahepatic cholestasis (PFIC), originally described as "Byler disease" in an Amish kindre
29 results