Christiane Auray-Blais

Prix et distinctions

• (2025) Quebec Interprofessional Council's Merit Award. Quebec Interprofessional Council.
• (2025) King Charles III’s Coronation Medal. Chancellery of Honours at Rideau Hall.
• (2019) Researcher of the Month. Centre de recherche clinique.
• (2017) Prize: University Mission /Promoting Research. Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke du Québec.
• (2015) RECMUS Award (for teaching and supporting students). Université de Sherbrooke.
• (2013) Achievements Related to the Study of Newborn Inherited Metabolic Disorders. Proteomass Scientific Society.
• (2010) Prix rayonnement. Fondation du CHUS.
• (2008) Recipient of the Best Ph.D. Thesis of the Year in the Province of Quebec. Association des doyennes et des doyens des études supérieures au Québec.
• (2008) Recipient of the Best Ph.D. Thesis of the year at the Université de Sherbrooke. Université de Sherbrooke.
• (2007) Recipient of the Excellence Award at the CHUS Medical Centre. Centre hospitalier universitaire de Sherbrooke.
• (2005) Recipienty of the "Example Award". Centre de réadaptation Estrie.

Financement

• Subvention. Recherche évaluative visant le dépistage néonatal de maladies métaboliques héréditaires dans l’urine collectée sur papier filtre chez tous les nouveau-nés du Québec en utilisant la spectrométrie de masse en tandem. Programme de financement de projets structurants en recherche translationnelle, CR-CHUS (Sherbrooke, Canada). 75 000 $. (2025-2026).
• Subvention. Découverte et analyse de biomarqueurs de l’autisme. Opérations Enfant-Soleil (Montréal, Canada). 150 000 $. (2024-2025).
• Subvention. Pompe biomarkers. Sanofi Canada (Toronto, Canada). 235 330 $. (2024-2026).
• Contrat. Biomarker Analysis for Fabry Disease Patients. Chiesi Farmaceutici (Parma, Italie). 2 821 452 $. (2023-2029).
• Subvention. Evaluation of lyso-Gb3 and related analog biomarkers in Finnish and Quebec Fabry patients in relation with cardiomyopathy and cardiac events. Sanofi Canada (Toronto, Canada). 37 291 $. (2021-2022).
• Contrat. Analyse de biomarqueurs pour assurer le suivi des patients Fabry. Chiesi Farmaceutici (Parma, Italie). 114 500 $. (2021-2023).
• Subvention. Biomarqueurs de la fibrose kystique. Fondation J.A. DeSève (Montréal, Canada). 250 000 $. (2021-2024).
• Subvention. Evaluation of biomarkers for patients receiving Migalastat after switching from enzyme replacement therapy. Amicus Therapeutics (Cranbury, NJ, États-Unis). (2020-2023).
• Contrat. Biomarker evaluation in mouse tissues. 4D Molecular Molecular Therapeutics (Emeryville, CA, États-Unis). (2019-2020).
• Subvention. Technological Upgrade for the Neonatal Urine Screening Program. Fondation R. Howard Webster (Montréal, QC, Canada). Foundation. (2019-2021).
• Subvention. Batten disease (CLN2) biomarker discovery in urine and plasma using a mass spectrometry metabolomic approach. BioMarin Pharmaceutical (San Rafael, CA, États-Unis). (2019-2022).
• Contrat. Biomarker evaluation in mouse tissues. 4D Molecular Molecular Therapeutics (Cambridge, États-Unis). 94 650 USD. (2019-2020).
• Contrat. Biomarker Gb3 and lyso-Gb3 analysis from mice plasma and tissues from various organs using tandem mass spectrometry. Sigilon Therapeutics (Cambridge, MA, États-Unis). (2018).
• Contrat. An open-label, multinational study of the efficacy and safety of ex vivo lentiviral vector-mediated gene therapy AVR-RD-01 for treatment-naïve subject with classic Fabry disease. Avrobio (Cambridge, MA, États-Unis). (2018-2025).
• Subvention. Technological Upgrade for Newborns in Quebec. Fondation J.A. DeSève (Montréal, QC, Canada). (2018).
• Subvention. Towards individual personalized management of patients with Fabry disease in a nationwide study of female Danish patients during enzyme replacement therapy. Long-term clinical study of new globotriaosylceramide (Gb3) isoforms/analogues and globotriaosylsphingosine (Lyso-Gb3) analogues in plasma and urine of Fabry disease patients, and relation to genotypes. Shire Human Genetics Therapies (Cambridge, MA, États-Unis). (2017-2021).
• Subvention. Biomarker analysis in the phase III clinical trials of PRX-102 from Protalix. Protalix ltd (Carmiel, Israel, Israël). (2017-2025).
• Subvention. Development and Validation of a Tandem Mass Spectrometry Methodology for the Analysis of Dermatan Sulfate and Heparan Sulfate in MPS II Mice Tissues. Shire Human Genetics Therapies (Cambridge, MA, États-Unis). (2017-2019).
• Subvention. Development and Validation of a Tandem Mass Spectrometry Methodology for the Analysis of Keratan Sulfate Disaccharides in Urine Samples Collected on Filter Paper for Patients with Mucopolysaccharidosis type IVA. BioMarin Pharmaceuticals Inc (Novato, CA, États-Unis). (2017-2018).
• Contrat. Biomarker evaluation for Fabry disease SRT study. Sanofi Genzyme (Cambridge, États-Unis). (2017).
• Subvention. Metabolomic studies for discovery of novel Gaucher disease biomarkers, and development and validation of methods in urine and plasma, (excluding type 2 and 3 Gaucher disease. Shire Human Genetic Therapies (Cambridge, MA, États-Unis). (2016-2022).
• Contrat. Biomarker Gb3 and lyso-Gb3 from plasma and tissues of mice and rats. Moderna TX Inc (Cambridge, MA, États-Unis). (2016-2018).
• Subvention. Continuous Training on Clinical and Biological Manifestations on Gaucher Disease. Shire Human Genetics Therapies (Cambridge, MA, États-Unis). (2016-2017).
• Subvention. Team Grant Prematurity/Rare Disease Screening Evaluation by Mass Spectrometry. Waters Corp (Milford, MA, États-Unis). (2016).
• Subvention. Biomarker evaluation for Fabry children detected by Newborn Screening in Taipei. Shire Human Genetic Therapies (Cambridge, États-Unis). (2014-2018).
• Subvention. L’analyse efficiente de la podocyturie par spectrométrie de masse en tandem: un outil important pour les femmes souffrant de pré-éclampsie et de diabète gestationnel. Foundation of Stars (Montréal, QC, Canada). Foundation. (2014-2016).
• Contrat. Liquid urine validation according to the Martell methodology. BioMarin Pharmaceutical (Novato, CA, États-Unis). 75 000 $. (2014).
• Subvention. High-risk screening for Fabry disease in males and females with chronic kidney disease: Expanding to candidate sites. Genzyme (Cambridge, États-Unis). (2013-2017).
• Subvention. Alpha-Galactosidase A and Glycosphingolipid metabolites as Putative Biomarkers for Parkinson’s Disease. Michael J. Fox Foundation for Parkinson's Research (New York, États-Unis). (2013-2015).
• Subvention. Novel strategy for diagnosis of Pompe disease patients using next generation sequencing technologies. Sanofi Genzyme (Cambridge, États-Unis). (2013-2015).
• Subvention. Mise en place d’un système de surveillance des patientes présentant une rupture préterme et prématurée des membranes. PAFI - Faculty of Medicine and Health Sciences (Université de Sherbrooke, Canada). (2013-2015).
• Subvention. Evaluation of glycosaminoglycan urinary excretion and the relationship with disease severity, response to treatment and the impact of co-morbidities in mucopolysaccharidoses. Shire Human Genetic Therapies (Cambridge, États-Unis). (2012-2018).
• Subvention. The FACTs Project: FAbry disease Clinical Research and Therapeutics. Canadian Institutes of Health Research (Toronto, ON, Canada). (2012-2018).
• Subvention. Identification of Novel Teratogens and Foeto-toxic Drugs: Epidemiology, Pharmacology, Toxicity, and Mechanisms of Action. Réseau québécois de recherche sur les médicaments (RQRM) (Montréal, QC, Canada). (2012-2013).
• Subvention. Évaluation du lyso-ene-Gb3 chez les enfants atteints de la maladie de Fabry. Foundation of Stars (Montréal, QC, Canada). (2011-2012).
• Subvention. L'hémoglobine foetale glyquée : un marqueur de la programmation fœtale?. Foundation of Stars (Montréal, QC, Canada). (2011-2012).
• Subvention. High-risk screening for Fabry disease in males and females with chronic kidney disease. Genzyme (Cambridge, États-Unis). (2011-2012).
• Subvention. Intégration de la pharmacologie et de l'imagerie moléculaire pour le développement d'outils diagnostiques. Fonds de Recherche du Québec - Santé (Quebec, Canada). (2010-2014).
• Subvention. Recherche sur les maladies héréditaires. Fondation du CHUS (Sherbrooke, Canada). (2010).
• Subvention. Études biochimiques et métabolomiques des biomarqueurs du diabète gestationnel chez le foetus et la mère. Foundation of Stars (Montréal, Canada). (2009-2010).
• Subvention. Evaluation of biomarkers used to improve the management of lysosomal storage disorder patients. Genzyme (Cambridge, États-Unis). (2008-2013).
• Subvention. Evaluation of biomarkers used to improve the management of lysosomal storage disorder patients. Canadian Institutes of Health Research (CIHR) (Ottawa, ON, Canada). Univsrity-Industry Partnership. (2008-2013).
• Bourse. Development of methodologies by mass spectrometry. Partnership Waters Corporation – CHUS (Montreal, QC, Canada). (2008-2013).
• Subvention. Evaluation of a Novel Biomarker for Fabry Disease. Fondation de la recherche sur les maladies infantiles (Montréal, Canada). (2008).
• Subvention. Identification and quantification of biomarkers for lysosomal storage disorders. Genzyme (Cambridge, États-Unis). (2008-2009).
• Subvention. Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics into the Canadian Health Care System. Canadian Fabry Disease Initiative (CFDI) (Halifax, NS, Canada). (2007-2021).

Publications

Articles

• Asma Farjallah, Christelle Bergeron, Dominic Cliche, André M. Cantin, Christiane Auray-Blais. (2026). Untargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS. Journal of Proteome Research. DOI
• Asma Farjallah, Bruno Maranda, Roberto Giugliani, Christiane Auray-Blais. (2025). Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis. Metabolomics. DOI
• Asma Farjallah, Bruno Maranda, Roberto Giugliani, Christiane Auray-Blais. (2025). Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study. Molecular Genetics and Metabolism. DOI
• Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin. (2025). Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial. Clinical and Translational Medicine. DOI
• Tristan Martineau, Bruno Maranda, Christiane Auray-Blais. (2024). UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. Biomolecules. DOI
• Christiane Auray-Blais, Pamela Lavoie, Tristan Martineau, C. Anthony Rupar, Dwayne L. Barber, Armand Keating, Ronan Foley, Aneal Khan, Michael L. West, Jeffrey A. Medin. (2024). Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy. Rare Disease and Orphan Drugs Journal. DOI
• D.A. Laney, M.F. Houde, A.L. Foley, D.S. Peck, A.M. Atherton, L.P. Manwaring, D.K. Grange, B.A. Heese, M.D. Holida, A.L. Quillin, R. Vinson, C. Auray-Blais, R.J. Hopkin. (2024). Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the GLA gene across 5 years: Longitudinal data from the Fabry MOPPet Study. Genetics in Medicine Open. DOI
• Christiane Auray-Blais, Pamela Lavoie, Tristan Martineau, Georges Kabala Ntumba, Mohamed Gamrani, Aneal Khan, Gheona Altarescu, Anna Lehman, Ozlem Goker-Alpan, Albina Nowak, Michael L West, Daniel G Bichet. (2023). Fabry Disease Biomarkers in Patients Switched From Enzyme-Replacement Therapy to Migalastat Oral Chaperone Therapy. Bioanalysis. DOI
• Mehdi Yeganeh, Christiane Auray‐Blais, Bruno Maranda, Amanda Sabovic, Robert J. DeVita, Michael B. Lazarus, Sander M. Houten. (2023). A case of hyperlysinemia identified by urine newborn screening. JIMD Reports. DOI
• Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto. (2023). Late-onset and classic phenotypes of Fabry disease in males with the <i>GLA</i>-Thr410Ala mutation. Open Heart. DOI
• Amr H. Saleh, Michael Rothe, Dwayne L. Barber, William M. McKillop, Graeme Fraser, Chantal F. Morel, Axel Schambach, Christiane Auray-Blais, Michael L. West, Aneal Khan, Daniel H. Fowler, C. Anthony Rupar, Ronan Foley, Jeffrey A. Medin, Armand Keating. (2023). Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease. Molecular Therapy - Methods &amp; Clinical Development. DOI
• Michel Boutin, Pamela Lavoie, Margot Beaudon, Georges Kabala Ntumba, Daniel G. Bichet, Bruno Maranda, Christiane Auray-Blais. (2023). Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots. International Journal of Molecular Sciences. DOI
• Iskren Menkovic, Michel Boutin, Pamela Lavoie, Christiane Auray‐Blais. (2023). Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1. Current Protocols. DOI
• He Helen Huang, Alan A Cohen, Pierrette Gaudreau, Christiane Auray-Blais, David Allard, Michel Boutin, Isabelle Reid, Valérie Turcot, Nancy Presse. (2022). Vitamin B-12 Intake from Dairy but Not Meat Is Associated with Decreased Risk of Low Vitamin B-12 Status and Deficiency in Older Adults from Quebec, Canada. The Journal of Nutrition. DOI
• Menkovic I, Boutin M, Alayoubi A, Curado F, Bauer P, Mercier FE, Auray-Blais C. (2022). Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry. Diagnostics (Basel, Switzerland). DOI
• Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais. (2022). Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1. Journal of Proteome Research. DOI
• Michel Boutin, Nancy Presse, David Allard, Tristan Martineau, Pierrette Gaudreau, Christiane Auray-Blais. (2022). Methylmalonic Acid Analysis using Urine Filter Paper Samples to Screen for Metabolic Vitamin B 12 Deficiency in Older Adults. Bioanalysis. DOI
• Marcel A Kelkel, Michel Boutin, Filipa Curado, Peter Bauer, Éliane Beauregard-Lacroix, François E Mercier, Bruno Maranda, Iskren Menkovic, Tristan Martineau, Christiane Auray-Blais. (2022). Lysosphingolipid Urine Screening Test using Mass Spectrometry for the Early Detection of Lysosomal Storage Disorders. Bioanalysis. DOI
• Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E Mercier, Georges-Étienne Rivard, Christiane Auray-Blais. (2022). Quantitation of a Plasma Biomarker Profile for the Early Detection of Gaucher Disease type 1 Patients. Bioanalysis. DOI
• Budani M, Auray-Blais C, Lingwood C. (2021). ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species. Journal of lipid research. DOI
• Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda. (2021). Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry. International Journal of Neonatal Screening. DOI
• Aneal Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, ... Jeffrey A. Medin. (2021). Lentivirus-mediated gene therapy for Fabry disease. Nature Communications. DOI
• Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, ... Hughes DA. (2021). Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Molecular genetics and metabolism. DOI
• Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, François E. Mercier, Georges-Étienne Rivard, Christiane Auray-Blais. (2020). Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach. International Journal of Molecular Sciences. DOI
• Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, Krusinska E, Schiffmann R. (2020). Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. Genetics in medicine : official journal of the American College of Medical Genetics. DOI
• (2020). Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort. Journal of Medical Genetics. DOI
• (2020). Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres. Molecular Genetics and Metabolism Reports. DOI
• (2020). Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model. Journal of Lipid Research. DOI
• (2020). Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles. International Journal of Molecular Sciences. DOI
• (2020). Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease. Gastroenterology. DOI
• (2020). Mass spectrometry analysis of urinary methylmalonic acid to screen for metabolic vitamin B12 deficiency in older adults. Bioanalysis. DOI
• (2020). High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clinica Chimica Acta. DOI
• (2020). Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment. Diagnostics. DOI
• (2020). Identification of a reliable biomarker profile for the diagnosis of Gaucher disease type 1 patients using a mass spectrometry-based metabolomic approach. International Journal of Molecular Sciences.
• (2019). Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS. Diagnostics. DOI
• (2019). Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. Journal of Medical Genetics. DOI
• (2019). Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients. Clinica Chimica Acta. DOI
• (2019). Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC–MS/MS. Bioanalysis. DOI
• (2019). Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta. American journal of translational research.
• (2019). FACTs Fabry gene therapy clinical trial: Two-year data. Molecular Genetics and Metabolism. DOI
• (2019). Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. DOI
• Christiane Auray-Blais. (2019). FACTs Fabry gene therapy clinical trial: Two-year data. 2019;126(2):S99. Molecular Genetics and Metabolism.
• (2018). Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. Journal of the American Heart Association. DOI
• (2018). UPLC–MS/MS analysis of KS from urine samples for monitoring & follow-up of Morquio A patients. Bioanalysis. DOI
• (2018). Analysis of globotriaosylceramide (Gb 3 ) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry. Analytica Chimica Acta. DOI
• (2018). Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. Journal of Inherited Metabolic Disease. DOI
• (2018). Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease. Journal of Inherited Metabolic Disease. DOI
• (2018). The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein. Neurobiology of Disease. DOI
• (2017). Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients. Analytical Chemistry. DOI
• (2017). Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34 + Cells for Correction of Fabry Disease. Molecular Therapy - Methods & Clinical Development. DOI
• (2017). High‐Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb 3 ) in Urine Collected on Filter Paper. Current Protocols in Human Genetics. DOI
• (2017). Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation. Clinica Chimica Acta. DOI
• (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet Journal of Rare Diseases. DOI
• (2016). Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion. Future Science OA. DOI
• (2016). High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb 3 Isoforms Using Tandem Mass Spectrometry. Current Protocols in Human Genetics. DOI
• (2016). Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry. Bioanalysis. DOI
• (2016). UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses. Analytica Chimica Acta. DOI
• (2016). Fabry Disease Biomarkers: Analysis of Urinary Lyso‐Gb 3 and Seven Related Analogs Using Tandem Mass Spectrometry. Current Protocols in Human Genetics. DOI
• (2016). Maternal inhaled fluticasone propionate intake during pregnancy is detected in neonatal cord blood. Bioanalysis. DOI
• (2016). Tandem Mass Spectrometry Quantitation of Lyso‐Gb 3 and Six Related Analogs in Plasma for Fabry Disease Patients. Current Protocols in Human Genetics. DOI
• (2016). Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease. Analytical Chemistry. DOI
• (2016). Differential acyl chain storage of multiple glycosphingolipids in mice with Fabry disease. Molecular Genetics and Metabolism. DOI
• (2016). Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC–MS/MS. Bioanalysis. DOI
• (2016). Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. Clinical Chemistry. DOI
• (2016). Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients. Clinica Chimica Acta. DOI
• (2016). Biomarker analysis of Fabry patient cell fractions using tandem mass spectrometry. Mol Gen Metab.
• (2016). Simultaneous analysis of glucosylceramide and galactosylceramide isoforms in mouse and human brain tissue samples using UPLC-MS/MS. Mol Gen Metab.
• (2015). Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Clinica Chimica Acta. DOI
• (2015). Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers. Journal of The American Society for Mass Spectrometry. DOI
• (2015). Assessment of Urinary Metabolite Excretion After Rat Acute Exposure to Perfluorooctanoic Acid and Other Peroxisomal Proliferators. Archives of Environmental Contamination and Toxicology. DOI
• (2015). Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clinica Chimica Acta. DOI
• (2014). Glycation of Fetal Hemoglobin Reflects Hyperglycemia Exposure In Utero: Table 1. Diabetes Care. DOI
• (2014). High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency. Clinica Chimica Acta. DOI
• (2014). Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb3-Related Analogues in Fabry Disease. Analytical Chemistry. DOI
• (2014). Outcomes of patients treated through the Canadian Fabry disease initiative. Molecular Genetics and Metabolism. DOI
• (2014). Quantitative UPLC-MS/MS Multiplex Urinary Analysis of Glycosaminoglycans for Mucopolysaccharidose Patients. Journal of Inborn Errors of Metabolism and Screening, Special Supplement 1.
• (2014). Validation of a Tandem Mass Spectrometry Assay for Quantitation of Keratan Sulfate Disaccharides in Urine of Patients with Morquio A Syndrome. Journal of Inborn Errors of Metabolism and Screening, Special Supplement 1.
• (2013). A Metabolomic Study To Identify New Globotriaosylceramide-Related Biomarkers in the Plasma of Fabry Disease Patients. Analytical Chemistry. DOI
• (2013). Multiplex Analysis of Novel Urinary Lyso-Gb3-Related Biomarkers for Fabry Disease by Tandem Mass Spectrometry. Analytical Chemistry. DOI
• (2013). A Metabolomic Study Reveals Novel Plasma Lyso-Gb3 Analogs As Fabry Disease Biomarkers. Current Medicinal Chemistry. DOI
• (2013). Combined malonic and methylmalonic aciduria (CMAMMA) due to deficiency of ACSF3: the Quebec experience. J. Inherit. Metab.
• (2013). Discovery of Novel Biomarkers for Fabry Patients with Cardiac Variant Mutations.
• (2013). Novel biomarkers for Fabry disease detected by a mass spectrometry approach. J. Inherit. Metab.
• (2012). Improved ways to screen for patients with Fabry disease, involving optometry in a multidisciplinary approach. Canadian Journal of Optometry. DOI
• (2012). LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease. Clinica Chimica Acta. DOI
• (2012). Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Human Genetics. DOI
• (2012). Novel Gb3 Isoforms Detected in Urine of Fabry Disease Patients: A Metabolomic Study. Current Medicinal Chemistry. DOI
• (2012). An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper. Clinica Chimica Acta. DOI
• (2012). Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics. Analytical Chemistry. DOI
• (2012). A Metabolomic Study Leads to Detection of Novel Fabry Disease Biomarkers. Mol. Genet. Metab.
• (2012). Biomarker Discovery for Fabry Disease Using a Mass Spectrometry Approach, 4th International Conference on Drug Discovery & Therapy, Recent Advances in Patient Treatment and Care. Current Medicinal Chemistry.
• (2012). Quantitative Analysis of Ceramides in Urine and Plasma of Fabry Patients.
• (2012). Quantitative Analysis of Ceramides in Urine and Plasma of Fabry Patients. Mol. Genet. Metab.
• (2012). Tandem Mass Spectrometry Multiplex Analysis of Lyso-Gb3-Related Analogs for Fabry Disease. Mol. Genet. Metab.
• (2011). Evaluation of the glycemic control in neonates: a novel technical approach for measuring fetal-glycated hemoglobin. Journal of Perinatology. DOI
• (2011). Analysis of trace metals in single droplet of urine by laser ablation inductively coupled plasma mass spectrometry. International Journal of Mass Spectrometry. DOI
• (2011). Mass spectrometry analysis of metals, other elements and lipids in urine samples of Fabry disease patients. International Journal of Mass Spectrometry. DOI
• (2011). Metabolomics and preterm birth: What biomarkers in cervicovaginal secretions are predictive of high-risk pregnant women?. International Journal of Mass Spectrometry. DOI
• (2011). Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography–Tandem Mass Spectrometry. Clinical Chemistry. DOI
• (2011). Determination of Glycated and Acetylated Hemoglobins in Cord Blood by Time-of-Flight Mass Spectrometry. Analytical Chemistry. DOI
• (2011). Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genetics in Medicine. DOI
• (2011). Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. Journal of Clinical Investigation. DOI
• (2011). Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Molecular Genetics and Metabolism. DOI
• (2010). How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?. Clinica Chimica Acta. DOI
• (2010). A randomized controlled trial of enzyme replacement therapy in Fabry disease: The Canadian Fabry disease initiative at year three. Molecular Genetics and Metabolism. DOI
• (2010). Biomarkers of Fabry Disease Nephropathy. Clinical Journal of the American Society of Nephrology. DOI
• (2010). Poster abstracts. Clinical Therapeutics. DOI
• (2010). Replacement Therapy in Fabry Disease: The Canadian Fabry Disease Initiative at Year Three. Mol. Genet. Metab.
• (2010). The Canadian Fabry disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry nephropathy. International Journal of Clinical Pharmacology and Therapeutics.
• (2009). Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography–tandem mass spectrometry in healthy infants from birth to 6months. Molecular Genetics and Metabolism. DOI
• (2009). Gb3/creatinine biomarkers for Fabry disease: Issues to consider. Molecular Genetics and Metabolism. DOI
• (2009). Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. Journal of Inherited Metabolic Disease. DOI
• (2009). Biomarkers in Fabry disease. Clinical Therapeutics.
• (2009). Introduction à la biochimie génétique. Ann. Biol. Clin.
• (2009). La maladie de Fabry: la complexité d’une maladie de surcharge. Ann. Biol. Clin.
• (2009). Le programme de dépistage urinaire de maladies métaboliques héréditaires et l’implication volontaire des parents du Québec et du Nunavut. Ann. Biol. Clin.
• (2008). Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. Journal of Clinical Investigation. DOI
• (2008). Further evidence for allelic heterogeneity in Hartnup disorder. Human Mutation. DOI
• (2008). Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Molecular Genetics and Metabolism. DOI
• (2008). Use of urinary globotriaosylceramide for Fabry screening in Canada. Clinical Therapeutics,.
• (2007). Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin. Annals of Human Genetics. DOI
• (2007). Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules. Journal of Inherited Metabolic Disease. DOI
• (2007). Biobanking Primer: Down to Basics. Science. DOI
• (2007). Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. Journal of Inherited Metabolic Disease. DOI
• (2007). Development of a filter paper method applicable to a mass urinary screening for Fabry disease. Mol. Gen. Metab.
• (2007). Mass urinary screening for Fabry disease: Is it feasible?. Mol. Gen. Metab.
• (2006). A biobank management model applicable to biomedical research. BMC Medical Ethics. DOI
• (2003). Newborn urine screening programme in the province of Quebec: An update of 30 years' experience. Journal of Inherited Metabolic Disease. DOI
• (1999). Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics. DOI
• (1990). Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec Neuroblastoma Screening Project. Pediatrics.
• (1989). Dépistage urinaire: L'urine des bébés du Québec, beaucoup plus précieuse que vous le pensez. Le Chimiste.
• (1989). Methylmalonic aciduria: a high incidence of cases detected in the Province of Québec. Current trends in infant screening. Excerpta Medica.
• (1989). Neuroblastoma screening: The Canadian experience. Medical and Pediatric Oncology. DOI
• (1989). Services génétiques: diagnostic et suivi de patients. Le Chimiste.
• (1989). Thin layer chromatography of homovanillic and vanillylmandelic acids applicable to a large scale neuroblastoma screening program. Current trends in infant screening.
• (1989). Thin-layer chromatography of urinary homovanillic acid and vanillylmandelic acid for large-scale neuroblastoma mass screening. Medical and Pediatric Oncology. DOI
• (1988). Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. Journal of Inherited Metabolic Disease. DOI
• (1987). Determination of urinary homovanillic and vanillylmandelic acids from dried filter paper samples: Assessment of potential methods for neuroblastoma screening. Clinical Biochemistry. DOI
• (1987). Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in Quebec. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.
• (1987). Advances in Neonatal Screening. Excerpta Medica.
• (1987). Controversies over neonatal screening for muscular dystrophy. Excerpta Medica.
• (1987). Letter to the Editor. Screening for neuroblastoma. The Lancet.
• (1985). Ontogeny modifies manifestations of cystinuria genes: Implications for counseling. The Journal of Pediatrics. DOI
• (1983). Histidinemia in a newborn urinary screening program. Neonatal Screening. Excerpta Medica.
• (1983). Screening for Duchenne Muscular Dystrophy: Preventive Strategies. Neonatal Screening.
• (1983). Thin layer chromatographic technique in a newborn urinary screening program. Neonatal Screening. Excerpta Medica.
• (1982). Comparison between Amino Acids and Orotic Acid Analysis in the Detection of Urea Cycle Disorders in the Quebec Urinary Screening Program. Urea Cycle Diseases.
• (1980). An automated method for the determination of orotic acid in the urine of children being screened for metabolic disorders. Clinical Biochemistry. DOI
• (1980). Diet and medications giving positive ninhydrin reactions on TLC in a newborn urinary screening program. Clinical Biochemistry. DOI
• (1979). Rapid thin-layer chromatographic method for the detection of urinary methylmalonic acid. Clinical Biochemistry. DOI
• (1978). Simple and rapid system for screening andidentification of reducing sugars in urine. Clinical Biochemistry. DOI
• Tandem Mass Spectrometry Multiplex Analysis of Lyso-Gb3-Related Analogs for Fabry Disease.

Chapitres de livre

• (2018). Depolymerisation of GAGs by Methanolysis and Analysis by Tandem Mass Spectrometry. Mucopolysaccharidoses Update (2 Volume Set).
• (2017). Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Reports. DOI
• (1999). Le Programme de dépistage urinaire des nouveau-nés du Québec et la collaboration des parents. Diagnostic et dépistage génétiques. Aspects cliniques, juridiques, éthiques et sociaux.
• (1984). Prolidase Deficiency: Detection of Cases by a Newborn Urinary Screening Programme. Organic Acidurias. DOI

Articles de conférence

• (2016). Canadian Fabry Disease Initiative Study (CFDI): 8 year Follow Up of Enzyme Replacement Therapy (ERT). Garrod Symposium 2016.
• (1998). Groupe de recherche en génétique et éthique du Québec. Association canadienne-française pour l’avancement des sciences (ACFAS).

Autres contributions

Cours enseignés ou supervisés à l'UdeS

• RBL740 - Spectrométrie de masse / applications en santé. (2024-2025). (3CR).

Présentations

• Christiane Auray-Blais. (2025). Biochemical Marker Evaluation in the Treatment of Fabry Disease Patients. Taïwan.
• Christiane Auray-Blais. (2025). Biochemical Marker Evaluation in the Treatment of Fabry Disease Patients. Taïwan.
• Christiane Auray-Blais. (2025). Biochemical Marker Evaluation in the Treatment of Fabry Disease Patients. Taïwan.
• Christiane Auray-Blais. (2025). Biochemical Marker Evaluation in the Treatment of Fabry Disease Patients. Taïwan.
• Christiane Auray-Blais. (2025). Glycosphingolipids and rare diseases. Singapour.
• Christiane Auray-Blais. (2025). Translational research & biomarker discovery using metabolomics: approaches & pitfalls, Practical training course (parts 1 and 2). Singapour.
• Christiane Auray-Blais. (2025). Fabry Disease Biomarker Evaluation During a Five-Year Gene Therapy Clinical Trial. États-Unis.
• Christiane Auray-Blais. (2024). La spectrométrie de masse pour les maladies orphelines: de micromolécules à macromolécules.
• Christiane Auray-Blais. (2024). Historique : Volet urinaire : 55 ans au service des nouveau-nés et de leurs familles, 55 ans au service des nouveau-nés et de leurs familles.
• Christiane Auray-Blais. (2024). Le Programme québécois de dépistage néonatal urinaire: d’hier à aujourd’hui, 55 ans au service des nouveau-nés et de leurs familles.
• Christiane Auray-Blais. (2024). Mass Spectrometric Approaches to Urinary Metabolic Assessment. Canada.
• Christiane Auray-Blais. (2024). Biomarqueurs pour la maladie de Fabry et thérapie par chaperons.
• Christiane Auray-Blais. (2023). L’importance des biomarqueurs pour la maladie de Fabry.
• Christiane Auray-Blais. (2023). Les nouveautés en spectrométrie de masse.
• Christiane Auray-Blais. (2022). Importance du rôle des marqueurs biochimiques pour les patients atteints de la maladie de Fabry et de la maladie de Pompe.
• Christiane Auray-Blais. (2022). The Importance of Reliable Biomarkers for Lysosomal Storage Diseases.
• Christiane Auray-Blais. (2022). Organ specific biomarkers for Fabry Disease. Allemagne.
• Christiane Auray-Blais. (2021). Multiplex screening. Canada.
• Christiane Auray-Blais. (2021). The hunt for the perfect biomarker.
• Christiane Auray-Blais. (2021). Metabolomic studies for biomarker discovery in lysosomal storage disorders.
• Christiane Auray-Blais. (2021). Importance des biomarqueurs analysés par spectrométrie de masse face aux maladies rares. Canada.
• Christiane Auray-Blais. (2021). La recherche translationnelle utilisant la spectrométrie de masse. Canada.
• Christiane Auray-Blais. (2021). Novel glycosphingolipids detected for Fabry disease using a mass spectrometry approach. Singapour.
• Christiane Auray-Blais. (2021). Sanofi-Genzyme Invitation virtuelle Post-World Symposium.
• Christiane Auray-Blais. (2021). Ambassador Program from Sanofi Genzyme.
• Christiane Auray-Blais. (2021). La recherche translationnelle applicable à tous: des nouveau-nés aux aînés!.
• (2019). A Metabolomic Approach for Biomarker Discovery and Precision Medicine.
• (2019). Biomarker Discovery and Translational Research Leading to Clinical Utility: Experimental Approaches and Pitfalls, Practical training course.
• (2019). Correlations Between Podocyturia and Lyso-Gb3 Analogues in Fabry Disease, European Symposium on LSDs (ESLSD).
• (2019). Fabry Biomarkers: The Important Role of Lyso-Gb3 Analogues.
• (2019). Is Plasma Lyso-Gb3 Sufficient as the Only Sphingolipid Biomarker?.
• (2019). Lyso-Gb3 and Analogues in Fabry Disease.
• (2019). Lyso-Gb3 and Analogues: CFDI and FACTs Longitudinal Study.
• (2019). Newborn Urine Screening for Mucopolysaccharidoses Using a Tandem Mass Spectrometry Approach.
• (2019). Novel Biomarkers for Podocyturia Evaluation in Fabry Disease.
• (2019). Podocyturia Evaluation in Fabry Disease Using a Mass Spectrometry Approach.
• (2019). Podocyturia Evaluation in Women with Preeclampsia and Fabry disease Patients Using a Tandem Mass Spectrometry Approach.
• (2019). The Significance of Mass Spectrometry for Translational Research in Precision Medicine.
• (2019). UPLC-MS/MS Detection of Biomarkers of Mucopolysaccharidoses.
• (2018). A Technological Upgrade for Newborn Mass Urine Screening in the Province of Quebec.
• (2018). Biomarkers and their Role in Identification of Clinically Relevant Phenotypes.
• (2018). Biomarqueurs pour la maladie de Fabry et recherche translationnelle: du laboratoire jusqu’au suivi des patients.
• (2018). Liquid Chromatography-Tandem Mass Spectrometry Quantitative Biomarker Evaluation of Vitreous Fluid from a Gaucher Disease Type 3 Patient with Severe Ocular Involvement.
• (2018). Lyso-Gb3 and Analogues in Late-Onset Attenuated Variants.
• (2018). Role of Lyso-Gb3 and Analogues as Biological Markers in Fabry Disease.
• (2018). The Importance of Biomarker Discovery in Precision Medicine.
• (2018). The Role of Chromatography in the Separation of Glucosylceramide Isoforms from their Isobaric Galactosylceramide Counterparts in the Era of Precision Medicine.
• (2018). UPLC-MS/MS Analysis of Keratan Sulfate Using Urine Samples Collected on Filter Paper.
• (2017). Biomarkers in Translational Research: From Discovery to Clinical Applications.
• (2017). Fabry Disease Biomarkers.
• (2017). Emerging Biomarkers in LSDs.
• (2017). High-Risk Screening for Fabry Disease: What Can Easily Be Done for Early Detection.
• (2017). Lyso-Gb3 and Analogues in Cardiac Variant Mutations,.
• (2017). Mass Urine Screening for Inherited Metabolic Disorders Using a Reliable and Inexpensive Thin Layer Chromatography Methodology.
• (2017). Next Generation Sequencing: An Emerging Clinical Tool.
• (2017). What can newly discovered Fabry disease biomarkers reveal about disease severity?.
• (2016). A reliable multiplex mass spectrometry analysis of glycosaminoglycans for mucopolysaccharidoses,.
• (2016). Advances in Patient Diagnosis.
• (2016). Biomarqueurs pour la maladie de Fabry: dépistage, diagnostic et suivi des patients.
• (2016). Découverte de biomarqueurs pour les maladies lysosomales utilisant une approche métabolomique.
• (2016). Les mucopolysaccharidoses: physiopathologie et nouveaux tests de dépistage par spectrométrie de masse.
• (2016). Mass Spectrometry Applications: From Biomarker Discovery to Detection of Patients with Fabry Disease Having a Late-Onset Cardiac Mutation.
• (2016). Quelle place pour le lyso-Gb3 et ses analogues dans le diagnostic et le suivi de la maladie de Fabry.
• (2016). Recent Advances in Biomarker Discovery for Fabry Disease: Detection, Diagnosis, and Monitoring Patients.
• (2015). Biomarkers for Fabry Disease Patients with a Late-Onset Cardiac Variant Mutation.
• (2015). La mucopolysaccharidose: symptômes et diagnostic.
• (2015). Mass Spectrometry Approaches for Translational Research: From Biomarker Discovery to Clinical Applications.
• (2015). Mass Spectrometry Biomarker Analysis for the Identification, Monitoring and Follow- up of Patients.
• (2015). Metabolomic Approaches to Understanding Biomarkers in LSDs.
• (2015). Principles of Metabolomics for Biomarker Discovery and Translational Research.
• (2015). Understanding Biomarkers in LSDs – A Metabolomic Approach.
• (2015). Urinary Biomarkers in Translational Research: From Discovery to Clinical Applications.
• (2014). Analysis of Glycosaminoglycans Using Tandem Mass Spectrometry and uKS LC-MS/MS Validation.
• (2014). Biomarker Discovery and analysis for lysosomal storage disorders using mass spectrometry.
• (2014). Biomarker discovery to clinical applications: Down to basics!.
• (2014). Biomarkers for Fabry disease Patients with Cardiac Variant Mutations,.
• (2014). Biomarkers for Fabry disease: More is Better.
• (2014). Discovery of Biomarkers for Fabry patients with cardiac variant mutations.
• (2014). Découverte et analyse de nouveaux biomarqueurs pour la maladie de Fabry utilisant la spectrométrie de masse.
• (2014). Fabry Biomarkers: from discovery to clinical applications.
• (2014). From Benchtop to Bedside: the Importance of Efficient Biomarkers for Identification and Follow-up of Rare Disorders.
• (2014). Health Care System in Canada and Clinical Research Activities at CRC-CHUS.
• (2014). Lyso-Gb3 Analogue Analysis for Fabry disease.
• (2014). Mass Spectrometry Approaches for Biomarker Discovery and Analysis in Fabry disease.
• (2014). Mass or High-Risk Screening of Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency Using a Multiplex Tandem Mass Spectrometry Methodology.
• (2014). Mass spectrometry detection of novel biomarkers for Fabry patients with cardiac variant mutations.
• (2014). Quantitative UPLC-MS/MS Multiplex Urinary Analysis of Glycosaminoglycans for MPS Patients.
• (2014). Rapport 2014, CRC-CHUS.
• (2014). The Provincial Mass Urinary Screening Program for Inherited Metabolic Disorders in the Province of Quebec, Genetic Counseling Center.
• (2014). Validation of the Martell uKs Method Using a UPLC-MS/MS System.
• (2013). A Urinary Metabolomic Approach for Fabry Disease Patients Leads to Novel Biomarker Detection and their Relative Quantification, Urinomics 2013.
• (2013). Discovery of Novel Biomarkers for Fabry disease Using a Mass Spectrometry Metabolomic Approach. 9th Metabolomics Meeting 2013.
• (2013). Fabry Outcome, Biomarkers.
• (2013). Mass Spectrometry Analysis of Novel Lyso-Gb3 Analogues.
• (2013). Mass spectrometry approach for novel Fabry disease biomarker detection.
• (2013). Newborn Mass Urine Screening Program for Inherited Metabolic Disorders in the Province of Quebec: a Dynamic Process.
• (2013). Novel biomarkers for Fabry disease detected by a mass spectrometry metabolomic approach.
• (2013). Recent Advances in Biomarker Discovery for Fabry Disease,.
• (2013). Recent Advances in Science and Biochemistry.
• (2012). A Metabolomic study Reveals Lyso-Gb3 Analogs.
• (2012). A Targeted Mass Spectrometry Metabolomic Approach for Biomarker Discovery in Fabry Disease.
• (2012). Biomarqueurs pour la maladie de Fabry: du Gb3 au lyso-Gb3 et ses analogues.
• (2012). Biomarqueurs pour les maladies lysosomales: découverte, identification et quantification par spectrométrie de masse,.
• (2012). Biomarqueurs, spectrométrie de masse, diagnostic, traitement et suivi.
• (2012). Gb3, lyso-Gb3 and Related lyso-Gb3 Analogs,.
• (2012). Gene Therapy for Fabry Disease Patients: The Importance of Efficient Biomarker Monitoring.
• (2012). Le Programme provincial de dépistage urinaire et perspectives de recherche.
• (2012). L’utilisation de la spectrométrie de masse: de la métabolomique à l’analyse de biomarqueurs pour la clinique,.
• (2012). Mass spectrometry: Research and clinical applications. Waters Canada Annual Meeting.
• (2012). Neonatal Mass Urine Screening for Inborn Errors of Metabolism in the Province of Quebec: an Update.
• (2012). Recent advances in biomarker discovery and analysis for lysosomal storage disorders using mass spectrometry.
• (2012). Spectrométrie de masse: Applications en clinique et en recherche,.
• (2012). Targeting Fabry Disease Biomarkers Using Mass Spectrometry-Based Metabolomics.
• (2011). Biomarker Discovery for Fabry Disease Using a Mass Spectrometry Approach.
• (2011). Biomarkers for mucopolysaccharidoses and Fabry disease using mass spectrometry.
• (2011). Challenges and Achievements in Clinical and research Mass Spectrometry Applications: the Sherbrooke Experience.
• (2011). Discovery of Novel Biomarkers for Fabry disease using a UPLC-QTOF Metabolomic Approach.
• (2011). From micromolecules to macromolecules: Investigation, challenges and future trends in biochemical genetics.
• (2011). LC-MS/MS Quantification of Glycosaminoglycans for Mucopolysaccharidoses.
• (2011). Le dépistage de maladies métaboliques héréditaires: l’expérience de Sherbrooke.
• (2011). Sample Collection and Processing form.
• (2011). Urinary Lyso-Gb3: A novel Biomarker for Fabry Disease.
• (2010). Biomarker Research in Medicine by Mass Spectrometry.
• (2010). Biomarkers for lysosomal storage disorders using mass spectrometry, Metabolic Disease Biomarkers and Healthcare.
• (2010). Gb3, lyso-Gb3 and metabolomic studies using mass spectrometry: how to improve monitoring of Fabry disease patients.
• (2010). How Useful is Urinary Lyso-Gb3 As A Biomarker for Fabry Disease?.
• (2010). Mass Spectrometry Applications in Biochemical Genetics: Current Trends.
• (2010). Mass Spectrometry Platform.
• (2010). The Use of Urine Gb3 as a Biomarker in Fabry Disease.
• (2010). Urinary lyso-Gb3: Is it a useful biomarker for Fabry disease.
• (2010). Urine Gb3 and CFDI Fabry patients.
• (2010). Urine lyso-Gb3 and correlations with Gb3 and other parameters.
• (2009). Biomarkers and Fabry disease, Focus on Fabry Nephropathy: Biomarkers.
• (2009). Biomarqueurs, maladies lysosomales et spectrométrie de masse en tandem: une approche clinique novatrice.
• (2009). Fabry disease urinary Gb3 biomarker evaluation using tandem mass spectrometry in healthy infants from birth to 6 months.
• (2009). Fabry disease urinary analysis of Gb3 and Lyso-Gb3 biomarkers by mass spectrometry.
• (2009). Importance of Biomarkers in Inborn Errors of Metabolism.
• (2009). Newborn mass urine screening for urea cycle and transport amino acid disorders.
• (2009). Réaction et proaction: Projet d’implantation d’un Programme québécois de dépistage néonatal intégré.
• (2009). Update on Biomarkers.
• (2009). Use of mass spectrometry in the biochemical genetics lab: An overview.
• (2008). A multiplex urinary Gb3/creatinine analysis using tandem mass spectrometry for Fabry disease.
• (2008). Biomarkers in lysosomal storage diseases.
• (2008). Genotype/phenotype correlations in Fabry disease.
• (2008). Le dépistage urinaire de maladies métaboliques héréditaires au Québec: vue d’ensemble.
• (2008). Mass Urinary Screening Program in the province of Quebec: an overview.
• (2008). Mass urinary screening for Fabry disease: Is it feasible?.
• (2008). Use of biomarkers in Fabry disease.
• (2007). LC-MS/MS analysis of urinary Gb3 and genotype correlations in children and adults with Fabry disease. Waters Industrial Workshop, CLMC Meeting.
• (2007). LC-MS/MS analysis of urinary globotriaosylceramide (Gb3) to study genotype/phenotype correlations in children and adults with Fabry disease.
• (2007). Le Programme de dépistage urinaire de maladies métaboliques héréditaires: de micromolécules aux macromolécules. Congrès de l’OPTMQ.
• (2007). Le Programme de dépistage urinaire et l’importance de l’analyse de biomarqueurs, Entretiens des biochimistes de la région de Québec. Programme de résidence en biochimie - Cours BCX-64241, Hôpital St-François d’Assise.
• (2007). L’évolution du Programme provincial de dépistage urinaire au fil des ans.
• (2007). L’évolution du Programme provincial de dépistage urinaire au fil des ans. Midi clinique.
• (2007). Newborn urinary mass screening program: From micromolecules to macromolecules. Dalhousie University,.
• (2007). Screening for inborn errors of metabolism: the importance of urinary biomarkers,. Medical Genetics Program, Duke University Medical Center.
• (2007). Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
• (2006). A rapid and simple LC-MS/MS method for urinary GL-3 analysis in Fabry disease. International Congress on Inborn Errors of Metabolism.
• (2006). L’évolution du dépistage urinaire de maladies métaboliques héréditaires au cours des années. Grand Rounds de Pédiatrie, CHUL.
• (2006). Mass spectrometry for monitoring urinary GL-3 for Fabry disease. Waters Industrial Workshop entitled “Mass Spectrometry in the Clinical Laboratory.
• (2005). Identification and quantification of biomarkers for lysosomal storage disorders. International. Conference on Inborn Errors of Metabolism and Symposium.
• (2005). Identification and quantification of biomarkers for lysosomal storage disorders: the Quebec project. Canadian Lab Expert Meeting.
• (2005). Newborn Mass Urinary Screening Program Principles and practice. International Conference on Inborn Errors of Metabolism and Symposium.
• (2005). Quantitative analysis of aminoacids in biological fluids. International Conference on Inborn Errors of Metabolism and Symposium.
• (2005). Thin Layer Chromatography of Amino acids and Organic acids for Urinary Mass Screening. International Conference on Inborn Errors of Metabolism and Symposium.
• Use of urinary Gb3 for Fabry screening in Canada.

Affiches pour une conférence

• Christiane Auray-Blais, Pamela Lavoie, Tristan Martineau, Bruno Maranda. (2025). Evaluative Research for Mass Urinary Screening of Inborn Errors of Metabolism in Newborns Using Tandem Mass Spectrometry. MSACL. Canada.
• Christiane Auray-Blais, Floresse Merveilles Kpaossou, Tristan Martineau, Marie-Claude Déry, Pamela Lavoie. (2025). Improving Newborn Screening Second Tier Test via Mass Spectrometry for Enhanced Quality Assessment. MSACL. Canada.
• Christiane Auray-Blais, Tristan Martineau, Priya S Kishnani, Bruno Maranda. (2025). Metabolomic and Lipidomic Approaches to Investigate New Biomarkers for Pompe Disease. MSACL. Canada.
• Christiane Auray-Blais, Corentin Fracapane, Annie Ouellet. (2025). UPLC-MS/MS method to evaluate a neurotransmitter panel in women using cannabis during pregnancy. MSACL. Canada.
• Christiane Auray-Blais, Pamela Lavoie, Bruno Maranda. (2025). Feasibility of newborn screening of Triple H syndrome using dried urine spots analyzed by flow-injection mass spectrometry. 21st World Symposium 2025. États-Unis.
• Christiane Auray-Blais, Georges Kabala Ntumba. (2024). The Usefulness of a Full Profile of Globotriaosylsphingosine (Lyso-Gb3) and Related Analogues in Dried Blood Spots for Fabry Disease Patients. 8th Fabry Nephropathy Update. Allemagne.
• Christiane Auray-Blais, Pamela Lavoie, Georges Kabala Ntumba, Daniel G Bichet, Bruno Maranda. (2024). Analysis by tandem mass spectrometry of lyso-Gb3 and related analogues in dried blood spots: a convenient way to monitor patients affected with Fabry disease. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, Asma Farjallah, Pamela Lavoie, Bruno Maranda, Roberto Giugliani. (2024). Discovery of Novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, Pamela Lavoie, Tristan Martineau, Georges Kabala Ntumba, Mohamed Gamrani, Aneal Khan, Gheona Altarescu, Anna Lehman, Ozlem Goker-Alpan, Albina Nowak, Michael L West, Daniel G Bichet. (2024). Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, Pamela Lavoie, Bruno Maranda. (2024). Technological update of the Provincial Neonatal Urine Screening Program in Quebec. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, G Effraimidis, Pamela Lavoie, A Lund, M Dunø, F Wibrand, Å Rasmussen, U Feldt-Rasmussen. (2024). The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, Tristan Martineau, Bruno Maranda. (2024). Urine filter paper high-risk screening test for early detection of lysosphingolipidoses using tandem mass spectrometry. 20th Annual World Symposium 2024. États-Unis.
• Christiane Auray-Blais, Michel Boutin, Iskren Menkovic. (2023). Discovery and Structural Elucidation of Gaucher Disease (Type 1) Biomarkers in Urine. Metabolomics 2023. Canada.
• Christiane Auray-Blais, Tristan Martineau, Michel Boutin, Iskren Menkovic. (2023). High risk urine screening test for early detection of lysosphingolipidoses using a tandem mass spectrometry approach. Metabolomics 2023. Canada.
• Christiane Auray-Blais, Nathan Ghafari, Iskren Menkovic, Pamela Lavoie, Michel Boutin, Lekha Sleno. (2023). Targeted and untargeted metabolomics of mucopolysaccharidoses model in mouse liver by LC-MS/MS. ASMS. États-Unis.
• Christiane Auray-Blais, GK Ntumba, Michel Boutin, M Beaudon, DG Bichet, Bruno Maranda. (2023). Mass spectrometry analysis of a complete profile of globotriaosylsphingosine (lyso-Gb3) and its analogues for patients with Fabry disease using dried blood spots. Garrod Symposium 2023. Canada.
• Christiane Auray-Blais, Pamela Lavoie, Iskren Menkovic. (2023). Mass spectrometry assays for better management of patients with mucopolysaccharidoses. Garrod Symposium 2023. Canada.
• Christiane Auray-Blais, Mohamed Gamrani, Pamela Lavoie, Michel Boutin. (2023). The importance of reliable Fabry disease biochemical markers for early detection, monitoring, and follow up of patients. Garrod Symposium 2023. Canada.
• Christiane Auray-Blais, Iskren Menkovic, Michel Boutin. (2022). Biomarker profile for the prognosis, monitoring, and follow up of Gaucher disease patients. Metabolomics 2022. Espagne.
• Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, M Beaudon, GK Ntumba. (2022). From the discovery of novel Fabry disease biomarkers in plasma by untargeted metabolomics to their analysis in dried blood spots. Metabolomics 2022. Espagne.
• Christiane Auray-Blais, Iskren Menkovic, Michel Boutin. (2022). Translational research targeting the discovery of novel urinary biomarkers for lysosomal storage disorders using a metabolomic approach. Metabolomics 2022. Espagne.
• Christiane Auray-Blais, HH Huang, AA Cohen, P Gaudreau, D Allard, M Boutin, V Turcot, N Presse. (2021). Vitamin B-12 intake from dairy but not meat is associated with decreased risk of vitamin B-12 deficiency in older adults. Journée PIVOT: Mieux vieillir du Centre de recherche sur le vieillissement (CdRV). Canada.
• Christiane Auray-Blais, Marcel Kelkel, Michel Boutin. (2021). Lysosphingolipid detection using a non-invasive urine multiplex mass spectrometry approach for various lysosomal storage diseases. World Symposium 2021.
• Christiane Auray-Blais, Iskren Menkovic, Michel Boutin, A Alayoubi, FE Mercier, Georges-Étienne Rivard. (2021). Metabolomic Study for the Identification and Characterization of Novel Gaucher Disease Biomarkers. World Symposium 2021.
• Christiane Auray-Blais, Michel Boutin. (2021). The Importance of Mass Spectrometry-Based Untargeted Metabolomic Approaches for Biomarker Discovery in Lysosomal Diseases. World Symposium 2021.
• (2020). Analysis of Urinary Sphingolipids in Patients with Rare Genetic Diseases Using a Tandem Mass Spectrometry Approach. World Symposium 2020.
• (2020). Efficient tandem mass spectrometry method for the analysis of methylmalonic acid in urine. ASMS.
• (2020). Mass Spectrometry Approach Allowing Correlations Between Podocyturia and Glycosphingolipids in Fabry Disease Patients. World Symposium.
• (2020). Populational Newborn Screening for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS Using Urine Samples Collected on Filter Paper. ASMS.
• (2020). Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Test for Lyso-Gb3 and Related Analogs in Dried Blood Spots for Monitoring and Follow Up of Fabry Disease Patients. World Symposium.
• (2019). Canadian Pilot Clinical Trial: Lentivirus-Mediated Gene Therapy for Adult Fabry Disease. GAM.
• (2019). FACTs Fabry Gene Therapy Clinical Trial: Two Year Data. World Annual 2019 Symposium.
• (2019). High-risk screening for Fabry disease in chronic kidney disease patients. World Annual 2019 Symposium.
• (2019). LC-MS/MS-based glycosaminoglycan measurement: Expert considerations on methods and use in screening, diagnosis and management of patients with mucopolysaccharidoses. World Annual 2019 Symposium.
• (2019). MS/MS-based glycosaminoglycan measurement: Expert considerations on methods and use in screening, diagnosis and management of MPS patients. SSIEM 2019.
• (2019). Podocalyxin and Podocin Multiplex Urine Analysis using Tandem Mass Spectrometry for the Evaluation of Podocyturia in Patients. ASMS June 2019.
• (2019). Podocyturia evaluation in women with preeclampsia and Fabry disease patients using a tandem mass spectrometry approach. MSACL 2019.
• (2019). Simple and rapid tandem mass spectrometry method for the analysis of methylmalonic acid in urine. MSACL 2019.
• (2017). Feasibility to Screen Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency in Newborn Urine Specimens using a Multiplex Tandem Mass Spectrometry Methodology. MSACL 2017.
• (2017). Mass Spectrometry Glycosaminoglycan Analysis for Mucopolysaccharidoses: a Reliable and Non-Invasive Tool for Detection, Diagnosis and Follow Up of Patients. The 13th International Conference of the Metabolomics Society.
• (2017). Quantitative Analysis of Heparan Sulfate and Dermatan Sulfate in MPS II Mouse Tissues by Tandem Mass Spectrometry. MSACL 2017.
• (2017). Quebec Urinary Screening Program: From Thin Layer Chromatography to Tandem Mass Spectrometry. MSACL 2017.
• (2017). Tandem Mass Spectrometry Analysis of Gb3 Isoforms and Analogues in Different NOD/SCID Fabry Mice Tissues. The 13th International Conference of the Metabolomics Society.
• (2016). A reliable multiplex mass spectrometry analysis of glycosaminoglycans for mucopolysaccharidoses. SSIEM Annual Symposium.
• (2016). Biomarkers positively associated with left ventricular mass index, and Mainz Severity Score Index in a cohort of Fabry disease patients with the IVS4 + 919G >A late-onset mutation. Garrod Symposium 2016.
• (2016). Canadian Fabry Disease Initiative Study (CFDI): 8 year outcomes of a randomized controlled trial of enzyme replacement therapy (ERT). SSIEM Annual Meeting.
• (2016). Fabry Disease Biomarkers: From Discovery to Clinical Use. 99th CSC meeting Halifax.
• (2016). Mass spectrometry analysis of disaccharides for Morquio syndrome by enzymatic digestion of keratan sulfate. MPS 2016.
• (2016). Multiplex methodology for the analysis of dermatan sulfate, heparan sulfate, keratan sulfate and chondroitin sulfate by UPLC-MS/MS,. MPS 2016.
• (2016). Novel Biomarkers Associated with Disease Manifestations in a Large Taiwanese Fabry Patient Cohort. 12nd Annual International Conference of the Metabolomics Society.
• (2016). Switch of Enzyme Replacement Therapy (ERT) in the Canadian Fabry Disease Initiative Study (CFDI): Intermediate follow-up at 3 and a half years. SSIEM Annual Meeting.
• (2016). Switch of Enzyme Replacement Therapy (ERT) in the Canadian Fabry Disease Initiative Study (CFDI): Intermediate follow-up at 3 and a half years. Garrod Symposium 2016.
• (2016). UPLC-MS/MS Analysis of Keratan Sulfate Disaccharides as Biomarkers for Morquio A Syndrome Patients. Garrod Symposium 2016.
• (2016). UPLC-MS/MS analysis of glucosylceramide and galactosylceramide isoforms in Parkinson’s disease brain tissues. 12nd Annual International Conference of the Metabolomics Society.
• (2015). Biomarkers for Fabry disease: How to screen patients with late-onset cardiac variant mutations. SSIEM Annual Meeting.
• (2015). Biomarkers for mucopolysaccharidoses. LSD Club Meeting.
• (2015). Combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is probably a benign condition. Platform presentation. SSIEM.
• (2015). Discovery of Novel Urinary Galabiosylceramide-Related Biomarkers for Fabry Disease Using a Q-Tof Mass Spectrometry Metabolomic Approach. 63rd ASMS Conference on Mass Spectrometry & Allied Topics St-Louis.
• (2015). Discovery of Novel Urinary Galabiosylceramide-Related Biomarkers for Fabry Disease Using a Q-Tof Mass Spectrometry Metabolomic Approach. ASMS.
• (2015). Discovery of novel urinary galabiosylceramide-related biomarkers for Fabry disease using a Q-Tof mass spectrometry metabolomic approach. 63rd ASMS Conference on Mass Spectrometry and Allied Topics.
• (2015). Galabiosylceramide (Ga2) isoforms/analogues as biomarkers for Fabry disease patients,. World 2015.
• (2015). Investigation of biomarkers in immune response against human recombinant alpha-Gal A. 4th International Update on Fabry Nephropathy.
• (2015). Mass Spectrometry Multiplex Analysis of Urinary Glycosaminoglycans for Mucopolysaccharidose Patients. World 2015.
• (2015). Mass spectrometry analysis of alpha- Galactosidase A metabolites, globotriaosylceramide and globotriaosylsphingosine, in Parkinson disease brain tissues. 11th International Conference of the Metabolomics Society.
• (2015). Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers. LSD Club Meeting.
• (2015). Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers,. LSD Club Meeting.
• (2015). Methylated Gb3 Isoforms as Useful Biomarkers for Fabry Patients with the Cardiac Variant Mutation p.N215S. Fabry MasterClass VII.
• (2015). Tandem Mass Spectrometry Analysis of Urinary Glycosaminoglycans as Biomarkers for Mucopolysaccharidose Patients. Mass Spectrometry Applications to the Clinical Lab, MSACL.
• (2015). Tandem Mass Spectrometry Method to Evaluate the Distribution of Globotriaosylceramide (Gb3) Isoforms/Analogs in NOD/SCID/Fabry Mice Organs. Fabry MasterClass VII.
• (2015). UPLC-MS/MS Multiplex Methodology for Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency. Mass Spectrometry Applications to the Clinical Lab, MSACL.
• (2015). Urine Keratan Sulfate (uKS) Elevation in Lysosomal Storage Disorders (LSDs): Comparison of uKS levels in Morquio/MPS IV versus non-Morquio LSDs. World 2015.
• (2015). Urine Keratan Sulfate (uKS) in Morquio A Patients Measured via LC-MS/MS Method: Improved KS Detection as Compared to Dye-Based Methods and Report of Age-Specific uKS Reference Ranges. World 2015.
• (2015). Urine keratan sulfate (uKS) elevation in lysosomal storage disorders (LSDs): comparison of uKS levels in Morquio/ mucopolysaccharidosis (MPS) IV versus non-Morquio LSDs. SSIEM Annual Meeting.
• (2015). Urine keratan sulfate (uKS) in Morquio A patients measured via LC-MS/MS method: improved KS detection as compared to dye-based methods and report of age-specific uKS reference ranges. SSIEM Annual Meeting.
• (2014). Quantification de nouveaux biomarqueurs pour la maladie de Fabry par spectrométrie de masse en tandem,. Journée scientifique de la FMSS, Sherbrooke.
• (2014). A sensitive and specific UPLC-MS/MS multiplex analysis of urinary glycosaminoglycans for an efficient diagnosis of patients with mucopolysaccharidoses type I, II, III, IV, and VI. Garrod 2014 Meeting,.
• (2014). Discovery of Galabiosylceramide-Related Fabry Disease Urinary Biomarkers Using a Mass Spectrometry-Based Metabolomic Approach. 10th Annual International Conference of the Metabolomics Society.
• (2014). Globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) and analogs in plasma and urine samples of subjects carrying different alpha-galactosidase gene mutations, exonic variants of unknown significance or a functional single nucleotide polymorphism of the 5’-untranslated region. Fabry Expert Lounge Meeting Rome.
• (2014). Glycation of Fetal Hemoglobin Reflects Hyperglycemia Exposure in Utero. CDA/CSEM Annual Conference.
• (2014). Is it time to consider LC-MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?. Garrod 2014 Meeting.
• (2014). Mass Spectrometry Metabolomic Approaches Lead to a New Paradigm for Fabry Disease Patient Investigation. 10th Annual International Conference of the Metabolomics Society.
• (2014). Mass or High-Risk Screening of Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency using a multiplex tandem mass spectrometry methodology. Garrod 2014 Meeting.
• (2014). Monitoring Biomarkers of Disease Burden and Age Adjusted Severity Scores in Fabry Disease: Case Studies. ACMG.
• (2014). Novel Methylated Gb3 Isoform Biomarker Analysis Using UPLC-MS/MS for Fabry Disease Patients. Garrod 2014 Meeting.
• (2014). Novel strategy for the diagnosis of late onset Pompe disease using next generation sequencing technologies. ASHG.
• (2014). Pre-Clinical Patient Cell Mobilizations and Transduction Outcomes in Preparation for a Clinical Trial of Lentivirus-Mediated Gene Therapy for Fabry Disease. The American Society of Gene and Cell Therapy Annual Meeting.
• (2014). Profiling of Glycosphingolipids for Relative Organ Distribution in NOD/SCID/Fabry Mice. Garrod 2014 Meeting,.
• (2014). Relative Distribution of a Glycosphingolipid Biomarker Profile in NOD/SCID/Fabry Mouse Organs. World Symposium 2014.
• (2014). Relative Quantification of Seven Methylated Gb3 Isoforms in Urine and Plasma as Fabry Disease Biomarkers,. World Symposium 2014.
• (2014). UPLC-MS/MS Multiplex Analysis for Mass or High-Risk Screening of Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency. ASMS 2014.
• (2014). UPLC-MS/MS Multiplex Analysis for Mass or High-Risk Screening of Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency. ASMS 2014.
• (2014). What About The Excretion of Lyso-Gb3 in Fabry Adults Compared to Children?. World Symposium 2014.
• (2013). Metabolomic Study Reveals Novel Gb3 Analogues In Urine Of Fabry Patients. World 2013 LDN meeting.
• (2013). 13C16-Palmitic Acid Metabolization into Ceramide for the Determination of Ceramide Synthesis in Type 2 Diabetes Patients. Metabolomics 2013.
• (2013). A Metabolomic Study to Identify New and Existing Globotriaosylceramide-Related Biomarkers in the Plasma of Fabry Disease Patients. Biomarker Working Group.
• (2013). Clinical Effects of Neutralizing Anti-agalsidase Antibodies in Patients Receiving Enzyme Replacement Therapy in the Canadian Fabry Disease Initiative Study. World 2013 LDN meeting.
• (2013). Combined Malonic and Methylmalonic Aciduria (CMAMMA) due to deficiency of ACSF3: the Quebec experience. The Garrod 2013 Association Meeting.
• (2013). Discovery of Novel Gb3-Related Biomarkers of Fabry disease,. The Garrod 2013 Association Meeting.
• (2013). Evaluation of Urinary and Plasma Biomarkers in Patients with Fabry Disease. World 2013 LDN meeting.
• (2013). Gene Therapy for Fabry Disease Patients: The Importance of Efficient Biomarker Monitoring. World 2013 LDN meeting.
• (2013). Lyso-Gb3 and Related Analogues Revealed by a Mass Spectrometry Metabolomic Approach. Biomarker Working Group.
• (2013). Relative Quantification of Seven Urinary Lyso-Gb3 Analogues as Fabry disease Biomarkers. World 2013 LDN meeting.
• (2013). Simultaneous Analysis of Seven Lyso-Gb3-Related Urinary Biomarkers for Fabry Disease Using LC-MS/MS. The Garrod 2013 Association Meeting.
• (2012). A Targeted Mass Spectrometry Metabolomic Approach for Biomarker Discovery in Fabry Disease,. 3rd Annual Congress of Biomarkers.
• (2012). Assessment of urinary globotriaosylsphingosine (Lyso-Gb3), globotriaosylceramide (Gb3) by LC-MS/MS in patients with Fabry disease. Society for Inborn Errors of Metabolism (SIMS) Annual Meeting, Charlotte.
• (2012). Detection of Novel Fabry Disease Biomarkers Using a Metabolomic Approach. Garrod Annual Meeting.
• (2012). Neonatal Mass Urine Screening for Inborn Errors of Metabolism in the Province of Quebec: an Update. 3rd International Conference on Biochemistry and Medical Chemistry.
• (2012). Neonatal Mass Urine Screening for Inborn Errors of Metabolism in the Province of Quebec: an Update. Recent Researches in Medicine and Medicinal Chemistry.
• (2012). Novel Fabry Disease Biomarkers Detected by a Metabolomic Time-of-Flight Mass Spectrometry Approach. ASMS.
• (2012). Quantification of glycosaminoglycans in human urine and mouse tissue by UPLC-MS/MS. Society for Inborn Errors of Metabolism (SIMS) Annual Meeting.
• (2012). Relationship between endogenous pain inhibition in patients with chronic pain and neuropeptide concentrations in cerebrospinal fluid and plasma. Congrès annuel de la Society for Neuroscience.
• (2012). Targeting Fabry Disease Biomarkers Using Mass Spectrometry-Based Metabolomics. 3rd International Conference on Biochemistry and Medical Chemistry.
• (2011). Analysis of Glycosaminoglycans in Cerebrospinal Fluid and Urine Using Tandem Mass Spectrometry: Potential for Therapeutic Monitoring of Patients with Mucopolysaccharidoses. ASMS.
• (2011). Analysis of Glycosaminoglycans in Cerebrospinal Fluid using Tandem Mass Spectrometry: Potential for Therapeutic Monitoring of Patients with Mucopolysaccharidoses. Lysosomal Disease Network 7th Annual World Symposium.
• (2011). Discovery of Novel Biomarkers for Fabry disease using a UPLC-QTOF Metabolomic Approach. 2nd Annual Congress of Biomarkers.
• (2011). Efficient Urine Filter Paper Mass Spectrometry Methodology For Glycosaminoglycan Quantification. Lysosomal Disease Network 7th Annual World Symposium.
• (2011). Glycosaminoglycan Quantification by LC-MS/MS for Mucopolysaccharidoses. SSIEM Annual Symposium 2011.
• (2011). Métabolomique et prématurité. ACFAS.
• (2011). Méthode d’analyse par spectrométrie de masse en tandem de nouveaux biomarqueurs urinaires pour la maladie de Fabry. Journée scientifique de la pédiatrie.
• (2010). A New Marker Assessing Fetal Metabolic Programming: the Fetal Glycated Hemoglobin. American Diabetes Association.
• (2010). A Urinary Glycosaminoglycan Analysis by Tandem Mass Spectrometry, Lysosomal Disease Network. Lysosomal Disease Network 6th Annual World Symposium.
• (2010). Biomarkers for lysosomal storage disorders using mass spectrometry,. 1st Annual Tetra Congress of MolMed.
• (2010). Fabry disease metabolomic studies using a UPLC-QTof mass spectrometry approach. HPLC Conference.
• (2010). Fabry disease metabolomic studies using a UPLC-QTof mass spectrometry approach. HPLC.
• (2010). Gb3, lyso-Gb3 and metabolomic studies using mass spectrometry: how to improve monitoring of Fabry disease patients. 3rd Annual Protein and Peptide Conference.
• (2010). Glycated Fetal Hemoglobin is Measurable and could Stage Metabolic Programming,. CDA/CSEM Professional Conference.
• (2010). How Useful is Urinary Lyso-Gb3 As A Biomarker for Fabry Disease?. Lysosomal Disease Network 6th Annual World Symposium.
• (2010). Influence of Anti-agalsidase Antibodies on Clinical Outcomes in the Canadian Fabry Disease Initiative Study. 11th European Round Table Meeting on Fabry.
• (2010). Influence of Anti-agalsidase Antibodies on Clinical Outcomes in the Canadian Fabry Disease Initiative Study. American Society of Nephrology Annual Meeting.
• (2010). Marked Variability In Urinary Gb3/Creatinine Excretion In Healthy Infants. Lysosomal Disease Network 6th Annual World Symposium.
• (2010). Metabolomic Studies In Fabry Disease Using Mass Spectrometry. Lysosomal Disease Network 6th Annual World Symposium.
• (2009). An efficient high-risk screening protocol for Fabry disease. 5th Annual World Symposium.
• (2009). Fabry disease urinary Gb3 biomarker evaluation using tandem mass spectrometry in healthy infants from birth to 6 months. Garrod Association Annual Symposium.
• (2009). Newborn mass urine screening for urea cycle and transport amino acid disorders,. 11th International Congress on Amino Acids, Peptides and Proteins.
• (2009). The Canadian Fabry Disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry Nephropathy. Focus on Fabry Nephropathy: Biomarkers, Progression and Disease Severity.
• (2009). The Canadian Fabry Disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry nephropathy. 9th International Symposium on Lysosomal Storage Diseases.
• (2008). A multiplex urinary Gb3/creatinine analysis using tandem mass spectrometry for Fabry disease. Garrod Association Annual Symposium.
• (2008). Diagnosis of mucopolysaccharidosis type 1 using dried blood spots enzyme activity assay. Duke Medical Center Workshop.
• (2008). Gb3 analysis for Fabry disease by LC-MS/MS using urine filter paper samples. Society for the Study of Inborn Errors of Metabolism Annual Symposium.
• (2008). Genetics of Human Aminoacidurias. 33rd FEBS Congress & 11th IUBMB Conference.
• (2008). Managing biobanks with an efficient model in biomedical genetics research. Society for the Study of Inborn Errors of Metabolism Annual Symposium.
• (2008). Mass Urinary Screening Program in the province of Quebec: an overview. Garrod Association Annual Symposium.
• (2008). Newborn Mass Urine Screening experience for amino acids and organic acids. Society for the Study of Inborn Errors of Metabolism Annual Symposium.
• (2008). The Expression of Amino Acid Transporters during Development and Disease. The Biennial Faculties of Health Research Conference "From Cell to Society, 6" (FCTS6).
• (2008). Use of urinary Gb3 for Fabry screening in Canada,. 5th Symposium on Lysosomal Storage Disorders.
• (2007). Corrélation entre le globotriaosylcéramide urinaire et le génotype chez des patients atteints de la maladie de Fabry. Club de recherche clinique, Mont-Tremblant,.
• (2007). Development of a filter paper method applicable to a mass urinary screening for Fabry disease. 3rd Annual World Symposium 2006 of the Lysosomal Disease Network.
• (2007). LC-MS/MS analysis of urinary globotriaosylceramide (Gb3) to study genotype/phenotype correlations in children and adults with Fabry disease,.
• (2007). Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. ASHG.
• (2006). A rapid and simple liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for urinary GL-3 analysis in Fabry disease. 10th International Congress of Inborn Errors of Metabolism (ICIEM).
• (2006). Quebec Neonatal Mass Urinary Screening Program: from micromolecules to macromolecules. 6th Meeting of the International Society for Neonatal Screening (ISNS).
• (2006). Rapid LC-MS/MS method for the detection of GL-3 biomarker in Fabry disease – Advantages of using urine filter paper samples,. ASMS Conference.
• (2006). Serendipity and sluice: inherited disorders of aminoacid transport. Lorne Genome Conference.
• (2006). Various technical approaches for acylcarnitine analysis. Garrod Society.
• (2005). Biomarkers for Fabry disease: the importance of LC-MS/MS. Canadian Mass Spectrometry Meeting.
• (2005). Different technical approaches for the analysis of acylcarnitines, Society for the Study of Inborn Errors of Metabolism. 42nd Annual Symposium.
• (2005). Screening (Mass and High-risk) and diagnosis of lysosomal storage diseases. World Symposium 2005, Lysosomal Disease Network.
• (2004). Organic acidurias: mass screening, management and follow-up in the province of Quebec. Society for the Study of Inborn Errors of Metabolism. 41st Annual Symposium.
• (2004). Quantitative measurements of succinylacetone in amniotic fluid and plasma using an isotope dilution mass spectrometric method: a sensitive approach to prenatal diagnosis and follow up of tyrosinemia type 1 patients. American Society of Human Genetics.
• (2003). High risk metabolic screening in the province of Quebec. IX International Congress on Inborn Errors of Metabolism.
• (2002). Detection of Organic Acidurias: An Add-On Test in a Newborn Mass Urinary Screening Program. 5th Meeting of the International Society for Neonatal Screening.
• (2001). Purines and pyrimidines. 10th International Congress on Human Genetics.
• (2001). Étude sur l’évaluation métabolique des purines et des pyrimidines. 22e Congrès de la Société québécoise de biologie clinique.
• (1999). Mass Urinary Screening Program in Quebec and the Detection of Urea Cycle Disorders and Methylmalonic Acidurias. 4th Meeting of the International Society for Neonatal Screening.
• (1998). Le Programme de Dépistage Urinaire des Nouveau-nés du Québec et la Collaboration des Parents. ACFAS.
• (1998). Le Programme de Dépistage Urinaire des Nouveau-nés du Québec et la Collaboration des Parents. ACFAS.
• (1998). Outcome of patients with low-moderate methylmalonic aciduria in Quebec. American Society of Human Genetics.
• (1998). Étude sur l'évaluation métabolique des purines, pyrimidines et nucléosides. Réseau de Génétique Humaine Appliquée.
• (1996). Investigation for feasibility of infant mass screening for multiple organic acidurias on filter paper urine samples. Third Meeting of The International Society for Neonatal Screening Symposium,.
• (1996). Newborn Mass Screening Program for Metabolic Disorders in Quebec. Third Meeting of the International Society for Neonatal Screening,.
• (1988). Methylmalonic aciduria: a high incidence of cases detected in the Province of Québec from one million analyses. International Screening Symposium of Inborn errors of Metabolism.
• (1988). Thin layer chromatography of homovanillic and vanillylmandelic acids applicable to a large scale neuroblastoma screening program. International Screening Symposium of Inborn Errors of Metabolism.
• (1987). Sarcosinemia detected during a newborn urinary screening program. Fourth International Congress of Inborn Errors of Metabolism Sendai.
• (1986). Measurement of urinary methylmalonic acid at normal and abnormal levels in infancy. Third International Congress on Pediatric Laboratory Medicine.
• (1986). urinary screening program: 1.- A service to the population 2.- New perspective. 6th International and 5th National Symposium on Neonatal Screening.
• (1985). Detection of methylmalonic acid in a newborn urinary screening program. Can. Society for Clin. Investigation.
• (1984). Quebec Urinary Screening Program: Systematic detection of metabolic disorders in the newborn period. XII International Congress of Clinical Chemistry.
• (1984). Traitement avec la L-carnitine chez un patient atteint d'acidémie propionique. Congrès Québécois de la recherche clinique en sciences neurologiques.
• (1983). Follow-up of cases presenting enzymatic and transport disorders of amino acids metabolism. Second International Congrès en Pediatric Laboratory Medicine.
• (1981). Comparison between amino acids and orotic acid analysis in the detection of urea cycle disorders in a urinary screening program. Symposium on urea cycle diseases.
• (1980). A rapid and economic system for chromatographic analysis using thin layer chromatography. First International Congress of Pediatric Laboratory Medicine.
• (1980). The urinary screening program for hereditary metabolic disorders in the Province of Quebec. First International Congress of Pediatric Laboratory Medicine.
• (1971). Neonatal Screening for aminoaciduria in the Province of Québec.
• The Canadian Fabry Disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry Disease.

Activités professionnelles

• Poste d'invité. World Annual Symposium. Speed Mentoring Event. Mentor. San Diego/Orlando, CA/FL, États-Unis. (2023-).
• Poste d'invité. Waters Centre of Innovation. Scientific Director. Sherbrooke, Canada. (2019-).
• Université de Sherbrooke. 1st Canadian Symposium on Lysosomal Diseases. President of the Scientific Organizing Committee. Sherbrooke, QC, Canada. (2018).
• Canadian Symposium on Lysosomal Diseases. Member of the Scientific Organizing Committee. National, Canada. (2018-).
• Université de Sherbrooke. Tutorship Committee (Iskren Menkovic). Member. Sherbrooke, Quebec, Canada. (2016-2022).
• Université de Sherbrooke. Member of the Nomination Committee for the Administration Council of the Université de Sherbrooke. Sherbrooke, QC, Canada. (2016-2018).
• Université de Sherbrooke. Member of the Administration Council of the Université de Sherbrooke. Sherbrooke, QC, Canada. (2015-2018).
• Office québecois de la langue française. Service de l’évaluation du français pour les ordres professionnels. Member. Montreal, QC, Canada. (2014).
• Université de Sherbrooke. Member of the Committee for the Election of the President of the University. Sherbrooke, QC, Canada. (2013).
• Garrod association. Garrod Association Annual Symposium,. President of the Scientific Organizing Committee. Ottawa, Canada. (2013).
• Université de Sherbrooke. Fabry Expert Summit National Meeting,. President of the Scientific Organizing Committee. Sherbrooke, QC, Canada. (2013).
• Université de Sherbrooke. Member of the University Assembly of the Université de Sherbrooke. Sherbrooke, QC, Canada. (2012-2018).
• Fonds de Recherche du Québec - Santé. Member for Postdoctoral Grant Applications. QC, QC, Canada. (2011-2012).
• Université de Sherbrooke. Faculty of Medicine and Health Sciences. Member of the Council of the Faculty. Sherbrooke, QC, Canada. (2011-2014).
• Pediatric Research Foundation. Sherbrooke Wine Auction. Member of the Organizing Committee. Montreal, QC, Canada. (2011-).
• Comité d'éthique de la recherche du CHUS. Member on the Working Group on Biobanks in Research. Sherbrooke, QC, Canada. (2011).
• Centre hospitalier universitaire de Sherbrooke. Medical Genetics Division. Implementation of the CGH Technology. Sherbrooke, QC, Canada. (2010).
• Université de Sherbrooke. Tutorship Committee (Alexandre Parent). Member. Sherbrooke, QC, Canada. (2010-2013).
• Université de Sherbrooke. 1st Symposium on Biochips. President of the Scientific Organizing Committee on Biochips. Sherbrooke, QC, Canada. (2010).
• Garrod Association. Garrod Association Annual Symposium,. Member of the Organizing Committee. Ottawa, Canada. (2009).
• 11th Congress on Amino acids, Peptides and Proteins. Session « Urea cycle and transport disorders of amino acids ». Organizer and President - Session in the Congress on Amino acids, Peptides and Proteins, Vienna, Austria. Vienna, Autriche. (2009).
• Université de Sherbrooke. Symposium on Mass Spectrometry. President of the Scientific and Organizing Committee (every 2 years). Sherbrooke, QC, Canada. (2005-).
• Centre hospitalier universitaire de Sherbrooke. Research Ethics Board - REB Humans. Member. sherbrooke, Canada. (2003-2005).
• Université de Sherbrooke. Research Ethics Board - REB Humans. Member. Sherbrooke, QC, Canada. (2003-2005).
• Centre hospitalier universitaire de Sherbrooke. Canadian Council on Health Services Accreditation. Member at CHUS Clientele Committee and Management. sherbrooke, Canada. (2003-2005).
• Symphonic Orchestra of Youth in Sherbrooke. Member of the Administration Council. sherbrooke, Canada. (2003-2007).
• Centre hospitalier universitaire du CHUS. Member at CHUS Clientele Committee and Management. Member. Sherbrooke, Canada. (2000-2001).
• Order of Chemist - Quebec. Registrar and Administration Council Member. Montreal, QC, Canada. (2000-2001).
• Université Bishops. Day on Bioethics: Introduction to Bioethics. Organizor. Lennoxville, Canada. (1999).
• Université de Sherbrooke. Research Ethics Board - REB Humans. Member. Sherbrooke, QC, Canada. (1998-2001).
• La jarnidière du CHUS nursery. Administation Member Comittee. Sherbrooke, QC, Canada. (1986-1987).
• Journal "Le Haut-St-François". Member - Writing Committee. Cookshire-Eaton, Canada. (1986-1987).
• East Clifton Municipality. Municipal Councillor. Clifton-Est, Canada. (1985-1986).
• Canadian Association of Treatment Centres for Inherited Metabolic Diseases. Member. Montréal, QC - Québec, Canada. (1982-1983).
• Université de Sherbrooke. Open Doors. Member. Sherbrooke, QC, Canada. (1979-1983).