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Progressive familial intrahepatic cholestasis

8 Jan 2009

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular...

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PMID: 19133130
DOI: 10.1186/1750-1172-4-1

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