Research output

  1. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

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

  2. Unfolding mucopolysaccharidosis type III: Pathophysiology, diagnosis and treatment

    Research output: Thesis › Phd-Thesis - Research and graduation internal

  3. High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

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

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Projects

  1. Wijburg F.A.: inborn errors of metabolism in pediatrics: clinical, pathophysiological and therapeutic studies

    Project: Research

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ID: 111370