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Article

Newer variants of progressive familial intrahepatic cholestasis

27 Dec 2021

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders characterized by defects in bile secretion and presentation with intrahepatic cholestasis in infancy or childhood. The most common types include PFIC 1 (deficiency of FIC1 protein, ATP8B1 gene mutation), PFIC 2 (bile salt export pump deficiency, ABCB11 gene mutation), and PFIC 3 (multidrug resistance protein-3 deficiency,...

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Identifiers

PMID: 35070006
DOI: 10.4254/wjh.v13.i12.2024

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