Search Results - "abcb11"
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An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant
Published 2025-07-01Subjects: Get full textProgressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare pediatric cholestatic liver disease caused by genetic deficiency in the bile salt export pump (BSEP, ABCB11). BSEP is an ATP-binding cassette transporter and the primary regulator of hepatic bile acid efflux. Loss of BSEP functio...
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A 19-year-old Patient with Recurrent Pruritus and Jaundice
Published 2023-09-01Subjects: Get full textАim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the Clinic with skin pruritus, jaundice, dark urine, cla...
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Case Report: Genetic predisposition to low-dose NSAID-induced liver injury in real-world China
Published 2025-07-01Subjects: Get full textNon-steroidal anti-inflammatory drug (NSAID)-induced liver injury represents approximately 10% of reported drug-induced liver injury (DILI) cases, predominantly through idiosyncratic mechanisms. While epidemiological data are largely derived from Western populations with high NSAID utilization, Chin...
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