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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems, Anke P; van der Ham, Maria; Schiebergen-Bronkhorst, Birgit G M; van Aalderen, Mirjam; de Barse, Martina M J; De Gruyter, Fini E; van Hoek, Ilja N; Pras-Raves, Mia L; de Sain-van der Velden, Monique G M; Prinsen, Hubertus C M T; Verhoeven-Duif, Nanda M; Jans, Judith J M.
Afiliación
  • Willems AP; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • van der Ham M; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Schiebergen-Bronkhorst BGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • van Aalderen M; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • de Barse MMJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • De Gruyter FE; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • van Hoek IN; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Pras-Raves ML; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Front Mol Biosci ; 10: 1283083, 2023.
Article en En | MEDLINE | ID: mdl-38028537
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Mol Biosci Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Mol Biosci Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos