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Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review

21 Feb 2025

Abstract excerpt

INTRODUCTION: Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing PFIC can also cause cholestasis with a later paediatric onset or adult-onset cholestatic disease (AOCD). Pruritus is a symptom of cholestasis that can be so devastating that it requires a liver...

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PMID: 39984942
DOI: 10.1186/s13023-025-03599-2

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