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ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Couchonnal, Eduardo; Bouchard, Sophie; Sandahl, Thomas Damgaard; Pagan, Cecile; Lion-François, Laurence; Guillaud, Olivier; Habes, Dalila; Debray, Dominique; Lamireau, Thierry; Broué, Pierre; Fabre, Alexandre; Vanlemmens, Claire; Sobesky, Rodolphe; Gottrand, Frederic; Bridoux-Henno, Laure; Belmalih, Abdelouahed; Poujois, Aurelia; Brunet, Anne Sophie; Lachaux, Alain; Bost, Muriel.
Afiliação
  • Couchonnal E; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany. Electronic address: eduardo.couchonnal-bedoya@chu-
  • Bouchard S; Claude Bernard Lyon 1 University Lyon, France.
  • Sandahl TD; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus N, Denmark.
  • Pagan C; Department of Biochemistry and Molecular Biology, LBMMS, Hospices Civils de Lyon, France.
  • Lion-François L; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
  • Guillaud O; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
  • Habes D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Le Kremlin-B
  • Debray D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Inserm U1193, Hepatinov, University of Paris Saclay, Orsay, France.
  • Lamireau T; Children's Hospital, Paediatric Gastroenterology Unit, Bordeaux, France.
  • Broué P; Children University Hospital, Metabolic Disease Department, Toulouse, France.
  • Fabre A; APH, Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Vanlemmens C; University Hospital of Besancon, Paediatric Gastroenterology Unit, Besacon, France.
  • Sobesky R; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Paul Brousse Hospital, Hepatobiliary Centre, Hepatobiliary Centre, France.
  • Gottrand F; Univ- Lille, CHU Lille, UMR1286 Department of Pediatric Gastroenterology Hepatology and Nutrition, Lille, France.
  • Bridoux-Henno L; CHU Rennes, Department of Pediatric Gastroenterology, Rennes, France.
  • Belmalih A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
  • Poujois A; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; French National Rare Disease Reference Centre "Wilson's Disease and Other Copper-related Rare Diseases", Rothschild Foundation Hospital, Neurology Department, Paris, France.
  • Brunet AS; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France.
  • Lachaux A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Claude Bernard Lyon 1 University Lyon, France.
  • Bost M; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Biochemistry and Molecular Biology,
Eur J Med Genet ; 64(10): 104305, 2021 Oct.
Article em En | MEDLINE | ID: mdl-34400371
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / ATPases Transportadoras de Cobre / Degeneração Hepatolenticular Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / ATPases Transportadoras de Cobre / Degeneração Hepatolenticular Idioma: En Ano de publicação: 2021 Tipo de documento: Article