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Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
Nasr, Enas; Mamak, Eva; Feigenbaum, Anette; Donner, Elizabeth J; Mercimek-Mahmutoglu, Saadet.
Afiliação
  • Nasr E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
  • Mamak E; Department of Psychology, The Hospital for Sick Children, Toronto, Canada.
  • Feigenbaum A; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA.
  • Donner EJ; Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
  • Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada saadet.mahmutoglu@sickkids.ca.
J Child Neurol ; 30(5): 648-53, 2015 Apr.
Article em En | MEDLINE | ID: mdl-24789515
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piridoxina / Complexo Vitamínico B / Aldeído Desidrogenase / Epilepsia / Mutação Limite: Adolescent / Child / Humans / Male Idioma: En Revista: J Child Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piridoxina / Complexo Vitamínico B / Aldeído Desidrogenase / Epilepsia / Mutação Limite: Adolescent / Child / Humans / Male Idioma: En Revista: J Child Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá