Your browser doesn't support javascript.
loading
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin, Curtis R; Swanson, Michael A; Spector, Elaine; Meeks, Naomi J L; Kronquist, Kathryn E; Aslamy, Mezhgan; Wempe, Michael F; van Karnebeek, Clara D M; Gospe, Sidney M; Aziz, Verena G; Tsai, Becky P; Gao, Hanlin; Nagy, Peter L; Hyland, Keith; van Dooren, Silvy J M; Salomons, Gajja S; Van Hove, Johan L K.
Afiliação
  • Coughlin CR; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Swanson MA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Spector E; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Meeks NJL; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA.
  • Kronquist KE; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Aslamy M; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA.
  • Wempe MF; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • van Karnebeek CDM; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA.
  • Gospe SM; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Aziz VG; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, 80045, USA.
  • Tsai BP; Department of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.
  • Gao H; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, V5Z4H4, Canada.
  • Nagy PL; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.
  • Hyland K; Seattle Children's Research Institute, Seattle, Washington, USA.
  • van Dooren SJM; Seattle Children's Research Institute, Seattle, Washington, USA.
  • Salomons GS; Fulgent Genetics, Temple City, California, 91780, USA.
  • Van Hove JLK; Fulgent Genetics, Temple City, California, 91780, USA.
J Inherit Metab Dis ; 42(2): 353-361, 2019 03.
Article em En | MEDLINE | ID: mdl-30043187
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Aldeído Desidrogenase / Epilepsia Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Aldeído Desidrogenase / Epilepsia Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos