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Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.
Goubran, Mariam; Aderibigbe, Ayodeji; Jacquemin, Emmanuel; Guettier, Catherine; Girgis, Safwat; Bain, Vincent; Mason, Andrew L.
Afiliación
  • Goubran M; Department of Medicine, University of Alberta Hospital, Edmonton, Canada.
  • Aderibigbe A; Department of Medicine, University of Alberta Hospital, Edmonton, Canada.
  • Jacquemin E; Paediatric Hepatology & Paediatric Liver Transplant Department, Reference Center for Rare Paediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Assistance Publique-Hôpitaux de Paris, Faculty of Medicine and University Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France.
  • Guettier C; Pathology Department, Assistance Publique-Hôpitaux de Paris, Faculty of Medicine and University Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France.
  • Girgis S; Department of Laboratory Medicine and Pathology, University of Alberta Hospital, Edmonton, Canada.
  • Bain V; Department of Medicine, University of Alberta Hospital, Edmonton, Canada.
  • Mason AL; Department of Medicine, University of Alberta Hospital, Edmonton, Canada. andrew.mason@ualberta.ca.
BMC Med Genet ; 21(1): 238, 2020 11 30.
Article en En | MEDLINE | ID: mdl-33256620
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fibrosis / Colestasis Intrahepática / Trasplante de Hígado / Subfamilia B de Transportador de Casetes de Unión a ATP Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fibrosis / Colestasis Intrahepática / Trasplante de Hígado / Subfamilia B de Transportador de Casetes de Unión a ATP Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Canadá