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Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.
Akesson, Lauren S; Rius, Rocio; Brown, Natasha J; Rosenbaum, Jeremy; Donoghue, Sarah; Stormon, Michael; Chai, Charmaine; Bordador, Esmeralda; Guo, Yiran; Hakonarson, Hakon; Compton, Alison G; Thorburn, David R; Amarasekera, Sumudu; Marum, Justine; Monaco, Alisha; Lee, Crystle; Chong, Belinda; Lunke, Sebastian; Stark, Zornitza; Christodoulou, John.
Afiliación
  • Akesson LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia.
  • Rius R; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.
  • Brown NJ; SA Pathology SA Health Adelaide SA Australia.
  • Rosenbaum J; School of Biomedicine, Faculty of Medicine, Dentistry and Health Sciences University of Adelaide Adelaide Australia Australia.
  • Donoghue S; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.
  • Stormon M; Brain and Mitochondrial Research Group Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia.
  • Chai C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia.
  • Bordador E; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.
  • Guo Y; Department of Gastroenterology Royal Children's Hospital Melbourne Victoria Australia.
  • Hakonarson H; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia.
  • Compton AG; Department of Metabolic Medicine Royal Children's Hospital Melbourne Victoria Australia.
  • Thorburn DR; Department of Gastroenterology Children's Hospital Westmead Sydney New South Wales Australia.
  • Amarasekera S; Discipline of Child & Adolescent Health, Sydney Medical School University of Sydney Sydney New South Wales Australia.
  • Marum J; Department of Gastroenterology Children's Hospital Westmead Sydney New South Wales Australia.
  • Monaco A; Department of Metabolic Medicine Royal Children's Hospital Melbourne Victoria Australia.
  • Lee C; Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
  • Chong B; Center for Data-Driven Discovery in Biomedicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
  • Lunke S; Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
  • Stark Z; Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA.
  • Christodoulou J; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.
JIMD Rep ; 63(3): 240-249, 2022 May.
Article en En | MEDLINE | ID: mdl-35433172
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2022 Tipo del documento: Article