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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Stutterd, Chloe A; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y; Archer, John; Leventer, Richard J; Amor, David J; Lukic, Vesna; Bahlo, Melanie; Gow, Paul; Lockhart, Paul J; van der Knaap, Marjo S; Delatycki, Martin B.
Afiliação
  • Stutterd CA; Murdoch Children's Research Institute, Parkville, Australia.
  • Kidd A; Department of Neurology, Royal Children's Hospital, Parkville, Australia.
  • Florkowski C; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Janus E; Victorian Clinical Genetics Services, Parkville, Australia.
  • Fanjul M; Genetics Department, Canterbury Health laboratory, Christchurch, New Zealand.
  • Raizis A; Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand.
  • Wu TY; Western Health General Internal Medicine Unit, St Albans, Australia.
  • Archer J; Department of Medicine, Western Health, The University of Melbourne, Melbourne, Australia.
  • Leventer RJ; Murdoch Children's Research Institute, Parkville, Australia.
  • Amor DJ; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Lukic V; Department of Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand.
  • Bahlo M; Department of Neurology, Christchurch Hospital, Christchurch, New Zealand.
  • Gow P; Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Australia.
  • Lockhart PJ; Murdoch Children's Research Institute, Parkville, Australia.
  • van der Knaap MS; Department of Neurology, Royal Children's Hospital, Parkville, Australia.
  • Delatycki MB; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
Am J Med Genet A ; 185(10): 2941-2950, 2021 10.
Article em En | MEDLINE | ID: mdl-34089223
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidroximetilbilano Sintase / Porfiria Aguda Intermitente / Leucoencefalopatias / Disfunção Cognitiva Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidroximetilbilano Sintase / Porfiria Aguda Intermitente / Leucoencefalopatias / Disfunção Cognitiva Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália