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The role of <i>LSR</i> gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

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第一作者： Sinja,Ohlsson

第一单位： Clinic for Pediatrics II, University Medicine Essen, Essen, Germany.

作者： Sinja,Ohlsson ^[1] ; Alex,Zaufel ^[2] ; Natalia,Qvartskhava ^[2] ; Friedrich,Stock ^[3] ; Sophie,Hinreiner ^[4] ; Hideo A,Baba ^[5] ; Benas,Prusinskas ^[6] ; Ralf,Kubitz ^[7] ; Boris,Görg ^[2] ; Diran,Herebian ^[8] ; Elke,Lainka ^[1] ; Simone,Kathemann ^[1]

作者单位： Clinic for Pediatrics II, University Medicine Essen, Essen, Germany. ^[1] Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. ^[2] Institute of Human Genetics, University Medicine Essen, Essen, Germany. ^[3] Center for Human Genetics, Practice for Human Genetics Hehr, Regensburg, Germany. ^[4] Institute for Pathology, University Medicine Essen, Essen, Germany. ^[5] Department of Pediatrics, Vilnius University Hospital Santaros Clinics, Vilnius, Lithuania. ^[6] Department of Gastroenterology and Oncology, Bethanien Hospital, Moers, Germany. ^[7] Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Hospital Düsseldorf, Heinrich Heine Universität Düsseldorf, Düsseldorf, Germany. ^[8]

关键词 IBAT inhibitor LSR gene early onset intrahepatic cholestasis infantile intrahepatic cholestasis itching microcephaly progressive familiar intrahepatic cholestasis pruritus

DOI 10.3389/fped.2025.1582769

PMID 40980121

发布时间 2025-09-24

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The role of <i>LSR</i> gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

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The role of <i>LSR</i> gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

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