2024
DOI: 10.1097/mop.0000000000001380
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What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches

Michele Pinon,
Binita M. Kamath

Abstract: Purpose of review To highlight recent advances in pediatric cholestatic liver disease, including promising novel prognostic markers and new therapies. Findings Identification of additional genetic variants associated with progressive familial intrahepatic cholestasis (PFIC) phenotype and new genetic cholangiopathies, with an emerging role of ciliopathy genes. Genotype severity predicts outcomes in bile salt export pump (BSEP) deficiency, and post-biliar… Show more

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