Research interests

  • Inborn errors of metabolism in general.
  • Carnitine metabolism, with emphasis on carnitine biosynthesis and transport.
  • Barth syndrome and related phospholipid metabolism disorders. 
  • Lipidomics analysis using tandem mass spectrometry, applicable to numerous research fields.


Research output

  1. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Research output: Contribution to journalComment/Letter to the editorAcademic

  2. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. Acute aerobic exercise leads to increased plasma levels of R-and S-β-aminoisobutyric acid in humans

    Research output: Contribution to journalArticleAcademicpeer-review

View all (138) »

ID: 101571