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Cholestasis, Progressive Familial Intrahepatic, 2

Known as: Cholestasis, progressive familial intrahepatic 2, PFIC2, Progressive familial intrahepatic cholestasis 2 
National Institutes of Health

Related topics

Related topics

13 relations
ABCB11, 1-BP INS, 3767CAutosomal recessive inheritanceCholestasis, benign recurrent intrahepatic 2Congenital hypofibrinogenemia

Broader (1)

Intrahepatic Cholestasis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis
Background Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease that disrupts the… 
2016
2016
 Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis.
UNLABELLED  Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves… 
Highly Cited
2015
Highly Cited
2015
Elevated copper impairs hepatic nuclear receptor function in Wilson's disease.
Wilson's disease (WD) is an autosomal recessive disorder that results in accumulation of copper in the liver as a consequence of… 
Review
2012
Review
2012
Progressive familial intrahepatic cholestasis.
2012
2012
Progressive familial intrahepatic cholestasis and inborn errors of bile acid synthesis.
Highly Cited
2011
Highly Cited
2011
Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2): Correlation With Genetic and Immunohistochemical Studies
Progressive familial intrahepatic cholestasis, type 2 (PFIC2), characterized by cholestasis in infancy that may progress to… 
Review
2010
Review
2010
Liver disease associated with canalicular transport defects: current and future therapies.
2007
2007
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2
Object The authors report the case of a boy with PFIC type 2 or BRIC type 2 who suffered from liver dysfunction at 2 months after… 
Highly Cited
2006
Highly Cited
2006
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.
Highly Cited
2006
Highly Cited
2006
Genetic Variability, Haplotype Structures, and Ethnic Diversity of Hepatic Transporters MDR3 (ABCB4) and Bile Salt Export Pump (ABCB11)
Biliary excretion of bile salts and other bile constituents from hepatocytes is mediated by the apical (canalicular) transporters… 
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