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Is it Pompe Disease? Australian diagnostic considerations.
Tchan, Michel; Henderson, Robert; Kornberg, Andrew; Kairaitis, Kristina; Fuller, Maria; Davis, Mark; Ellaway, Carolyn; Reardon, Katrina; Corbett, Alastair; Needham, Merrilee; McKelvie, Penny.
Afiliação
  • Tchan M; Genetic Medicine, Westmead Hospital, The University of Sydney, Westmead, NSW, Australia. Electronic address: michel.tchan@health.nsw.gov.au.
  • Henderson R; Neurology, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
  • Kornberg A; Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
  • Kairaitis K; Department of Respiratory and Sleep Medicine, and University of Sydney at Westmead Hospital, the Westmead Institute for Medical Research, Westmead, NSW, Australia.
  • Fuller M; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia.
  • Davis M; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, WA, Australia.
  • Ellaway C; Paediatrician, Clinical Geneticist Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, NSW, Australia.
  • Reardon K; Neurology, St Vincent's Hospital, Fitzroy, VIC, Australia.
  • Corbett A; Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia.
  • Needham M; Neurology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Notre Dame University, WA, Australia.
  • McKelvie P; Neuropathology, St Vincent's Hospital, Fitzroy, VIC, Australia.
Neuromuscul Disord ; 30(5): 389-399, 2020 05.
Article em En | MEDLINE | ID: mdl-32418839
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Guias de Prática Clínica como Assunto Limite: Humans País como assunto: Oceania Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Guias de Prática Clínica como Assunto Limite: Humans País como assunto: Oceania Idioma: En Ano de publicação: 2020 Tipo de documento: Article