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- W2912200146 abstract "The mucopolysaccharidoses (MPSs) are a group of disorders caused by a deficiency of enzymes involved in the stepwise degradation of dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), or chondroitin sulfate (CS). We describe a LC-MS/MS method modification for routine determination of MPS which improves upon the existing method with respect to sample volume, sample preparation, and reduces the potential for false positive and false negative diagnosis when relying on a qualitative method. DS, HS and KS are enzymatically digested to disaccharides by the addition of chondroitinase B, heparinase I, II, III, and keratanase, while CS is enzymatically digested to disaccharides by chondroitinase AC prior to LC-MS/MS analysis. Intra- and inter-assay precision was assessed using urine samples (N=3) of varying concentrations. Intra-assay precision CVs ranged from 4.7 - 8.4% for DS 4.9 - 10.4% for HS 4.1 - 9.1% for KS and 4.9 - 5.3% for CS, respectively (N=20). Inter-assay precision CVs ranged from 10.9 - 14.2% for DS 8.9 - 14.9% for HS 9.2 - 14.8% for KS and 6.9 - 8.8% for CS, respectively in the same specimens (N=20). Three urine specimens spiked with MPS standard solutions at 2 levels exhibited recoveries ranging from 88% - 112%. Pediatric urine (age 1 day -" @default.
- W2912200146 created "2019-02-21" @default.
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- W2912200146 date "2019-02-01" @default.
- W2912200146 modified "2023-09-23" @default.
- W2912200146 title "Mucopolysaccharide quantitation in urine by LC-MS/MS" @default.
- W2912200146 doi "https://doi.org/10.1016/j.ymgme.2018.12.221" @default.
- W2912200146 hasPublicationYear "2019" @default.
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