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Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Minenkova, Anastasia; Jansen, Erwin E W; Cameron, Jessie; Barto, Rob; Hurd, Thomas; MacNeil, Lauren; Salomons, Gajja S; Mercimek-Andrews, Saadet.
Afiliação
  • Minenkova A; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Jansen EEW; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Cameron J; Metabolic Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Barto R; Department of Pediatric Laboratory Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Hurd T; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • MacNeil L; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Salomons GS; Metabolic Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
PLoS One ; 16(9): e0257073, 2021.
Article em En | MEDLINE | ID: mdl-34495967
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Peixe-Zebra / Aldeído Desidrogenase / Metabolismo Energético / Alelos / Epilepsia Tipo de estudo: Etiology_studies Limite: Animals Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Peixe-Zebra / Aldeído Desidrogenase / Metabolismo Energético / Alelos / Epilepsia Tipo de estudo: Etiology_studies Limite: Animals Idioma: En Ano de publicação: 2021 Tipo de documento: Article