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- W320129076 abstract "Mucopolysaccharidoses (MPS) are a heterogeneous group of inherited lysosomal storage disorders (LSDs), due to impaired breakdown of glycosaminoglycans (GAGs), resulting from dysfunctional lysosomal acid hydrolases. Determination of urinary GAG content is a first-line screening assay for MPS. We modified and evaluated a quantitative colorimetric method based on 1,9 Dimethyl-Methylene Blue (DMB) and were able to identify seven new pediatric cases of MPS within a year and subsequently confirmed them by enzymatic analysis. In addition, three cases with borderline urinary GAG content were subsequently diagnosed with other LSDs. We monitored a child with MPS III (Sanfilippo) type C treated with genistein at a dose of 5 mg/kg/day for over a year and we found no change in urine GAG content. In conclusion: the modified DMB colorimetric method is an, accurate and convenient method for measuring urinary GAGs content and facilitates the diagnosis and monitoring of MPS." @default.
- W320129076 created "2016-06-24" @default.
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- W320129076 date "2016-08-01" @default.
- W320129076 modified "2023-09-25" @default.
- W320129076 title "Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses" @default.
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- W320129076 doi "https://doi.org/10.1055/s-0036-1586409" @default.
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