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Pediatric metabolic diseases

Our research program includes basic, translational and clinical research on hereditary lysosomal and metabolic diseases, with the aim to further this field.

About our Department

Our research

Background information

Research is essential to better understand the diseases and find new cures for lysosomal and metabolic diseases. We study various hereditary lysosomal and metabolic diseases in the laboratory and in the clinic. We also co-research with patients. An example is the IPA / Erasmus MC Survey, in which more than 400 patients with Pompe disease from 11 countries complete a questionnaire which gives us information about the consequences of the disease and the effects of treatment.

Overall aim

Our overall aim is to better understand lysosomal and metabolic diseases, improve diagnostics and to develop novel therapies. Research on one particular disease can also help us to translate this to other diseases.

Research focus areas

We focus on basic, translational and clinical research.

Research lines


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