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Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson, Alexandra M; Mandelstam, Simone; Andrews, Ian; Boysen, Katja; Yaplito-Lee, Joy; Fietz, Michael; Nagarajan, Lakshmi; Rodriguez-Casero, Victoria; Ryan, Monique M; Smith, Nicholas; Scheffer, Ingrid E; Ellaway, Carolyn.
Afiliação
  • Johnson AM; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Mandelstam S; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Andrews I; Department of Radiology, University of Melbourne, Melbourne, Victoria, Australia.
  • Boysen K; Imaging and Epilepsy Group, The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.
  • Yaplito-Lee J; Department of Paediatric Radiology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Fietz M; Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Nagarajan L; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Rodriguez-Casero V; Department of Paediatrics, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Ryan MM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Smith N; Department of Metabolic medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Scheffer IE; Clinical Informatics, Illumina Australia, Melbourne, Victoria, Australia.
  • Ellaway C; Diagnostic genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia.
J Paediatr Child Health ; 56(8): 1210-1218, 2020 Aug.
Article em En | MEDLINE | ID: mdl-32329550

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Observational_studies Limite: Child / Child, preschool / Humans País/Região como assunto: Oceania Idioma: En Revista: J Paediatr Child Health Assunto da revista: PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Observational_studies Limite: Child / Child, preschool / Humans País/Região como assunto: Oceania Idioma: En Revista: J Paediatr Child Health Assunto da revista: PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália