Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Karlien L. M. Coene, Leo A. J. Kluijtmans, Ed van der Heeft, Udo F. H. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J. T. Kwast, Maartje van de Vorst, Marleen C. D. G. Huigen, Irene M. L. W. Keularts, Michiel F. Schreuder, Clara D. M. van Karnebeek, Saskia B. Wortmann, Maaike C. de Vries, Mirian C. H. Janssen, Christian Gilissen, Jasper Engel, Ron A. Wevers

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)337-353
Number of pages17
JournalJournal of Inherited Metabolic Disease
Volume41
Issue number3
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • Metabolomics
  • Biomarkers
  • High-resolution
  • QTOF
  • Mass spectrometry
  • Innovative laboratory diagnostics
  • Inborn errors of metabolism
  • Canavan disease
  • Xanthinuria
  • HIGH-RESOLUTION H-1-NMR
  • CLINICAL METABOLOMICS
  • MASS-SPECTROMETRY
  • PLASMA
  • DISORDERS
  • ACID
  • CHROMATOGRAPHY
  • BIOSIGNATURE
  • METABONOMICS
  • HEALTH

Cite this

Coene, K. L. M., Kluijtmans, L. A. J., van der Heeft, E., Engelke, U. F. H., de Boer, S., Hoegen, B., Kwast, H. J. T., van de Vorst, M., Huigen, M. C. D. G., Keularts, I. M. L. W., Schreuder, M. F., van Karnebeek, C. D. M., Wortmann, S. B., de Vries, M. C., Janssen, M. C. H., Gilissen, C., Engel, J., & Wevers, R. A. (2018). Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. Journal of Inherited Metabolic Disease, 41(3), 337-353. https://doi.org/10.1007/s10545-017-0131-6