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  • Title: Overview of Progressive Familial Intrahepatic Cholestasis.
    Author: Hassan S, Hertel P.
    Journal: Clin Liver Dis; 2022 Aug; 26(3):371-390. PubMed ID: 35868680.
    Abstract:
    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, advances in clinical molecular genetics have led to the identification of additional disorders that can cause these monogenic inherited cholestasis syndromes, and they are now increasingly referred to by the affected protein causing disease. The list of PFIC disorders is expected to grow as more causative genes are discovered. Here forth, we present a comprehensive overview of known PFIC disorders.
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