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Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri, Naif A M; Zha, Li; Young, Kim; Law, Terence; Kellogg, Mark D; Bodamer, Olaf A; Peake, Roy W A.
Afiliación
  • Almontashiri NAM; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Zha L; Faculty of Applied Medical Sciences and the Center for Genetics and Inherited Disorders, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Young K; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Law T; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kellogg MD; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bodamer OA; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Peake RWA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Sci Rep ; 10(1): 9382, 2020 06 10.
Article en En | MEDLINE | ID: mdl-32523032
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metabolómica / Enfermedades Genéticas Congénitas / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metabolómica / Enfermedades Genéticas Congénitas / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos