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Article

NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review

1 Feb 2024

Abstract excerpt

Abstract Farnesoid X receptor (FXR) is a nuclear bile acid receptor encoded by the NR1H4 gene, a vital regulator of bile acid homeostasis. Pathogenic mutations of NR1H4 manifest as low gamma‐glutamyl transferase (GGT) cholestasis with rapid progression to liver failure, which is referred to as progressive familial intrahepatic cholestasis 5 (PFIC‐5). Herein, we present a case with rapid progressive cholestasis,...

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PMID: 38405357
DOI: 10.1002/ccr3.8531

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