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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar, Mary; Jaggumantri, Sravan; Sargent, Michael; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D M.
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  • Dunbar M; Division of Pediatric Neurology, Department of Pediatrics, BC Children's Hospital, Vancouver, Canada.
  • Jaggumantri S; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, Canada.
  • Sargent M; Department of Radiology, BC Children's Hospital, Vancouver, Canada.
  • Stockler-Ipsiroglu S; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, Canada.
  • van Karnebeek CD; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, Canada; Centre for Molecular Medicine and
Mol Genet Metab ; 112(4): 259-74, 2014 Aug.
Article en En | MEDLINE | ID: mdl-24953403
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Creatina / Encefalopatías Metabólicas Innatas / Discapacidad Intelectual Ligada al Cromosoma X / Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática Tipo de estudio: Systematic_reviews Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Creatina / Encefalopatías Metabólicas Innatas / Discapacidad Intelectual Ligada al Cromosoma X / Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática Tipo de estudio: Systematic_reviews Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Canadá