Director of the Quebec Provincial Mass Urinary Screening Program. Professor in the Service of Genetics in the Department of Pediatrics at the Faculty of Medicine and Health Sciences at the University of Sherbrooke
Recent advances in biomarker discovery and analysis for lysosomal storage disorders using mass spectrometry
This presentation will introduce lysosomal storage disorders, and more specifically the characteristics of Fabry disease and mucopolysaccharidoses (MPSs). The detection of novel biomarkers for Fabry disease using a time-of-flight metabolomic approach will be presented along with recent tandem mass spectrometry methods to quantify glycosaminoglycans associated with MPS type I, II and VI.