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

Abstract 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...

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Bibliographic Details
Main Authors: Giovanni Vitale, Marco Sciveres, Claudia Mandato, Adamo Pio d’Adamo, Angelo Di Giorgio
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03599-2
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