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Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Al Teneiji, Amal; Bruun, Theodora U J; Cordeiro, Dawn; Patel, Jaina; Inbar-Feigenberg, Michal; Weiss, Shelly; Struys, Eduard; Mercimek-Mahmutoglu, Saadet.
Afiliação
  • Al Teneiji A; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Bruun TU; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Cordeiro D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Patel J; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Weiss S; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Struys E; Metabolic Laboratory, Department of Clinical Chemistry, VU Medical Centre, Amsterdam, The Netherlands.
  • Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada. saadet.mahmutoglu@sickkids.ca.
Metab Brain Dis ; 32(2): 443-451, 2017 04.
Article em En | MEDLINE | ID: mdl-27882480
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piridoxina / Vitaminas / Epilepsia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2017 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 / Vitaminas / Epilepsia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá