Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

Abstract Background and rationale Progressive familial intrahepatic cholestasis (PFIC) associated with myosin 5B deficiency is a rare liver disease characterised by elevated serum bile acids (sBAs) and severe pruritus. The objective of this study was to evaluate treatment with the ileal bile acid tr...

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書誌詳細

出版年:	Orphanet Journal of Rare Diseases
主要な著者:	Bertrand Roquelaure, Marco Sciveres, Tassos Grammatikopoulos, Eberhard Lurz, Folke Freudenberg, Dalila Habes, Lionel Thevathasan, Fatine Elaraki, Emmanuel Gonzales
フォーマット:	論文
言語:	英語
出版事項:	BMC 2025-05-01
主題:	Progressive Familial intrahepatic cholestasis Myosin 5B Pruritus Bilirubin Odevixibat Serum bile acid
オンライン･アクセス:	https://doi.org/10.1186/s13023-025-03728-x