Gepubliceerd in:

01-02-2013

Analysis of glycosaminoglycan storage in mucopolysaccharidosis patients on enzyme replacement therapy

Auteurs: T Wagemans, MH de Ru, L van der Tol, L IJlst, RJA Wanders, N van Vlies, FA Wijburg

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Mucopolysaccharidoses (MPSs) comprises a group of lysosomal storage diseases in which glycosaminoglycans (GAGs) accumulate, leading to neurological and skeletal defects. Attenuated MPS type I (MPSI) patients are treated with enzyme replacement therapy (ERT). Treatment efficacy is generally assessed by urinary GAG levels, measured with the dimethylmethylene blue (DMB) assay. However, it is unknown whether urinary GAG levels reflect tissue GAG accumulation. We determined GAG levels in plasma and urine, using HPLC-MS/ MS, in MPSI patients and compared these to GAG levels determined with the DMB assay. …

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