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

Year Number of Results
1999 1
2000 2
2001 1
2003 1
2004 2
2005 2
2006 1
2007 1
2008 1
2009 3
2010 5
2011 3
2012 5
2013 1
2014 1
2015 1
2016 1
2017 1
2018 9
2019 1
2021 2
2022 5
2023 1
2024 0

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49 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.
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ...The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences …
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ...The full spectra of …
Overview of Progressive Familial Intrahepatic Cholestasis.
Hassan S, Hertel P. Hassan S, et al. Clin Liver Dis. 2022 Aug;26(3):371-390. doi: 10.1016/j.cld.2022.03.003. Clin Liver Dis. 2022. PMID: 35868680 Review.
Bile acid transport is a complex physiologic process, of which disruption at any step can lead to progressive intrahepatic cholestasis (PFIC). The first described PFIC disorders were originally named as such before identification of a genetic cause. However, …
Bile acid transport is a complex physiologic process, of which disruption at any step can lead to progressive intrahepatic …
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A, Verkade HJ. Felzen A, et al. Eur J Med Genet. 2021 Nov;64(11):104317. doi: 10.1016/j.ejmg.2021.104317. Epub 2021 Aug 31. Eur J Med Genet. 2021. PMID: 34478903 Review.
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of genetic diseases that affect the bile production and the secretion of bile acids. ...Except for transplantation, treatment modalities have been ra …
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of geneti …
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 d …
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the …
Familial intrahepatic cholestasis: New and wide perspectives.
Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P. Vitale G, et al. Dig Liver Dis. 2019 Jul;51(7):922-933. doi: 10.1016/j.dld.2019.04.013. Epub 2019 May 16. Dig Liver Dis. 2019. PMID: 31105019 Review.
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) includes autosomal recessive cholestatic rare diseases of childhood. AIMS: To update the panel of single genes mutations involved in familial cholestasis. METHODS: PubMed se …
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) includes autosomal recessive cholestatic rare d …
Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
Strubbe B, Geerts A, Van Vlierberghe H, Colle I. Strubbe B, et al. Acta Gastroenterol Belg. 2012 Dec;75(4):405-10. Acta Gastroenterol Belg. 2012. PMID: 23402083 Free article. Review.
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are two rare autosomal recessive disorders, characterized by cholestasis. ...The differentiation between PFIC and BRIC is bas …
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis …
Progressive familial intrahepatic cholestasis.
Jacquemin E. Jacquemin E. Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. Clin Res Hepatol Gastroenterol. 2012. PMID: 23141890 Review.
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. ...In some PFIC1 and PFIC2 pati …
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive diso …
Progressive familial intrahepatic cholestasis.
Jacquemin E. Jacquemin E. J Gastroenterol Hepatol. 1999 Jun;14(6):594-9. doi: 10.1046/j.1440-1746.1999.01921.x. J Gastroenterol Hepatol. 1999. PMID: 10385071 Review.
Progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, is an inherited disorder of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period and leads to death from liver fai …
Progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, is an inherited disord …
Progressive familial intrahepatic cholestasis. Genetic basis and treatment.
Jacquemin E. Jacquemin E. Clin Liver Dis. 2000 Nov;4(4):753-63. doi: 10.1016/s1089-3261(05)70139-2. Clin Liver Dis. 2000. PMID: 11232355 Review.
Major advances in the understanding of the molecular mechanisms of bile formation and genetic studies of children with chronic cholestasis uncovered the molecular basis of PFIC. Specific defects in the FIC1, BSEP, and MDR3 genes are responsible for distinct PFIC phenotypes …
Major advances in the understanding of the molecular mechanisms of bile formation and genetic studies of children with chronic cholestasi …
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. ...Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis …
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and …
49 results