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MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales, Emmanuel; Taylor, Sarah A; Davit-Spraul, Anne; Thébaut, Alice; Thomassin, Nadège; Guettier, Catherine; Whitington, Peter F; Jacquemin, Emmanuel.
Afiliação
  • Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
  • Taylor SA; INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
  • Davit-Spraul A; Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Thébaut A; Department of Biochemistry, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
  • Thomassin N; Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
  • Guettier C; INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
  • Whitington PF; Department of Pediatrics, Grenoble University Hospital, Grenoble, France.
  • Jacquemin E; Department of Pathology, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Hepatology ; 65(1): 164-173, 2017 01.
Article em En | MEDLINE | ID: mdl-27532546
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Cadeias Pesadas de Miosina / Miosina Tipo V / Gama-Glutamiltransferase / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hepatology Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Cadeias Pesadas de Miosina / Miosina Tipo V / Gama-Glutamiltransferase / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hepatology Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França