Research interests

My research involves the molecular mechanisms of inherited metabolic disorders, more specifically peroxisomal disorders: Starting with identifying potentially disease-causing mutations, I functionally analyze the impact of said mutations on cell metabolism with the ultimate goal of discovering potential treatment options.

specialisation

Peroxisomal disorders

Research output

  1. Identification and characterization of novel peroxisomal disorders

    Research output: Thesis › Thesis: Research University of Amsterdam, graduation University of Amsterdam

  2. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

    Research output: Contribution to journal › Article › Academic › peer-review

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Projects

  1. Waterham H.R.: Defects in isoprenoid biosynthesis and peroxisome biogenesis

    Project: Research

  2. Wanders R.J.A.: Focus of research

    Project: Research

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ID: 54987