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Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin, Curtis R; van Karnebeek, Clara D M; Al-Hertani, Walla; Shuen, Andrew Y; Jaggumantri, Sravan; Jack, Rhona M; Gaughan, Sommer; Burns, Casey; Mirsky, David M; Gallagher, Renata C; Van Hove, Johan L K.
Afiliación
  • Coughlin CR; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States.
  • van Karnebeek CD; Division of Biochemical Diseases &Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Al-Hertani W; Department of Medical Genetics, Montreal Children's Hospital, McGill University of Health Centre, Montreal, QC, Canada.
  • Shuen AY; Department of Medical Genetics, Montreal Children's Hospital, McGill University of Health Centre, Montreal, QC, Canada.
  • Jaggumantri S; Division of Biochemical Diseases &Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Jack RM; Department of Laboratory Medicine, Seattle Children's Hospital Laboratory, Seattle, WA, United States.
  • Gaughan S; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States.
  • Burns C; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States.
  • Mirsky DM; Department of Radiology, University of Colorado, Aurora, CO, United States.
  • Gallagher RC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States.
  • Van Hove JL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States. Electronic address: Johan.Vanhove@childrenscolorado.org.
Mol Genet Metab ; 116(1-2): 35-43, 2015.
Article en En | MEDLINE | ID: mdl-26026794
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Arginina / Piridoxina / Complejo Vitamínico B / Epilepsia / Trastornos del Neurodesarrollo / Aminoácidos / Lisina Tipo de estudio: Observational_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Arginina / Piridoxina / Complejo Vitamínico B / Epilepsia / Trastornos del Neurodesarrollo / Aminoácidos / Lisina Tipo de estudio: Observational_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos