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ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
Kwong, Anna Ka-Yee; Chu, Vanessa Loi-Yan; Rodenburg, Richard J T; Smeitink, Jan; Fung, Cheuk-Wing.
Afiliação
  • Kwong AK; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Chu VL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Rodenburg RJT; Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Smeitink J; Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Fung CW; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address: fcw1209m@hku.hk.
Brain Dev ; 41(10): 883-887, 2019 Nov.
Article em En | MEDLINE | ID: mdl-31324350
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Fatores de Transcrição / Proteínas de Homeodomínio Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Fatores de Transcrição / Proteínas de Homeodomínio Idioma: En Ano de publicação: 2019 Tipo de documento: Article