Research output

  1. Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

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

  2. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

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

  3. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

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

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ID: 5946872