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Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Tseng, Laura A; Engelke, Udo F H; Huigen, Marleen C D G; Kluijtmans, Leo A J; Haaxma, Charlotte A; Koolen, David A; Bok, Levinus A; Wright, Jason N; Gospe, Sidney M; Janssen, Mirian C H; van Karnebeek, Clara D M; Coene, Karlien L M.
Afiliación
  • Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • Engelke UFH; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haaxma CA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Koolen DA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Bok LA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wright JN; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands.
  • Gospe SM; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
  • Janssen MCH; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
  • van Karnebeek CDM; Department of Pediatrics, Duke University, Durham, NC, USA.
  • Coene KLM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Clin Chem ; 68(5): 732-735, 2022 05 18.
Article en En | MEDLINE | ID: mdl-36189752
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Humans Idioma: En Revista: Clin Chem Asunto de la revista: QUIMICA CLINICA Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Humans Idioma: En Revista: Clin Chem Asunto de la revista: QUIMICA CLINICA Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos