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http://dx.doi.org/10.17480/psk.2016.60.1.15

Quantification of Globotriaosylsphingosine in Urine using UPLC-ESI-MS/MS; Application for Screening Fabry Disease  

Yoon, Hye-Ran (Biomedical & Pharmaceutical Analysis Lab., College of Pharmacy, Duksung Women's University)
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YAKHAK HOEJI / v.60, no.1, 2016 , pp. 15-20 More about this Journal
Abstract
Globotriaosylsphingosine (lyso Gb3) is considered as one of the biomarkers for Fabry disease. A rapid and simple UPLC-MS/MS method was developed for the determination of reliable biomarker, lyso Gb3. Total analytical procedure takes only 15 min including sample preparation and MS/MS analysis. Limit of detection was 0.85 ng/ml (S/N=3). The calibration curve was linear over the range of 2.0~400.0 ng/ml ($R^2=0.9999$). Inter-day and intra-day assay accuracy were 93.4~100.6% (RSD, 0.6~6.0%) and 97.5~100.7% (RSD, 3.6~5.2%). Absolute recoveries of 97.6~98.6 showed excellence of a new analytical method. The method was applied to human and mice urines, proved the suitability for the quantification of lyso-Gb3 for screening, diagnosis and therapeutic monitoring of Fabry disease patients.
Keywords
Fabry disease; Lyso-Gb3; MS/MS; inherited disease;
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