Article
ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Digestive diseases and sciences - 1 Dec 2022
Sinha Amil, Bhuva Meha, Grant Claire, Gimson Alexander E, Thompson Edward, Duckworth Adam, Davies Susan E, Aithal Guruprasad, Griffiths William J
Abstract excerpt
BACKGROUND: Mutations in the ABCB4 gene are associated with failure of bile acid emulsification leading to cholestatic liver disease. Presentations range from progressive familial intrahepatic cholestasis type 3 (PFIC3) in childhood, to milder forms seen in adulthood. AIMS: We sought to characterize adult disease with particular reference to histology which has been hitherto poorly defined. METHODS: Four...
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