Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.

Its drawbacks include the need for significant additional resources, additional trained professionals, ongoing service and maintenance costs, long chromatography times, the possibility of overlapping enzyme activities in carriers and some normal individuals, and the fact that for a given group of MPS patients, the clinical presentation may be very different but the differences in enzyme activity may not be significant enough to allow for an objective assessment of efficacy [ 10 , 13 , 81 ].

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