Research interests

The mucopolysaccharidoses (MPSs) are a group of severe lysosomal storage disorders, caused by a deficiency in the breakdown of glycosaminoglycans resulting in lysosomal accumulation and deregulation of different cellular functions. Depending on the MPS subtype, children may suffer from severe neurocognitive decline, cardiopulmonary disease and progressive skeletal deformations and many patients die at an early age.
The goal of our research is to gain a better understanding of the different pathophysiological mechanisms of MPSs to identify new targets for therapeutic intervention and biomarkers for better diagnosis.Currently, we study the pathophysiological mechanisms which underlie MPS bone disease and a newly developed liposomal delivery system for enzyme replacement therapy in MPS type I which specifically targets the brain.



Mucopolysaccharidoses, lysosomal storage disorders

Research output

  1. Soluble syndecan-1 and glycosaminoglycans in preeclamptic and normotensive pregnancies

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse

    Research output: Contribution to journalArticleAcademicpeer-review

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ID: 5177748