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.

specialisation

Clinical Biochemist IEM

Research output

  1. Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

    Research output: Contribution to journalReview articleAcademicpeer-review

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