Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

L.K.M. Steinbusch, P. Wang, H.W.A.H. Waterval, F.A.P.M. Stassen, K.L.M. Coene, U.F.H. Engelke, D.D.J. Habets, J. Bierau, I.M.L.W. Korver-Keularts*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Web of Science)
Original languageEnglish
Pages (from-to)1113-1123
Number of pages11
JournalJournal of Inherited Metabolic Disease
Volume44
Issue number5
DOIs
Publication statusPublished - 1 Sep 2021

Keywords

  • diagnostics
  • inborn error of metabolism
  • mass spectrometry
  • urine metabolomics
  • targeted
  • FUMARASE DEFICIENCY

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