Inborn errors of biliary canalicular transport systems.

Abstract excerpt

Cholestatic syndromes are inborn or acquired disorders of bile formation. In recent years, several inherited cholestatic syndromes were characterized at the molecular level: progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC). Both PFIC and BRIC were divided phenotypically in distinct subtypes; however, at the genotype level, these clinical entities overlap....

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