Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

by Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda
Published 2021-03-01

Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS

by Iskren Menkovic, Anne-Sophie Marchand, Michel Boutin, Christiane Auray-Blais
Published 2019-11-01

Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

by Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, François E. Mercier, Georges-Étienne Rivard, Christiane Auray-Blais
Published 2020-10-01

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

by Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen
Published 2020-11-01

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

by Aizeddin Mhanni, Michel Boutin, Frank Stockl, Janine Johnston, Jeff Barnes, Donald Duerksen, Leanne Zimmer, Christiane Auray-Blais, Cheryl Rockman-Greenberg
Published 2020-01-01

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein

by Michael P. Nelson, Michel Boutin, Tonia E. Tse, Hailin Lu, Emily D. Haley, Xiaosen Ouyang, Jianhua Zhang, Christiane Auray-Blais, John J. Shacka
Published 2018-02-01

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

by Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg
Published 2020-09-01

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

by Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, Christiane Auray-Blais
Published 2020-08-01

Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease

by Ju Huang, Aneal Khan, Bryan C. Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A. Medin
Published 2017-06-01

Lentivirus-mediated gene therapy for Fabry disease

by 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, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin
Published 2021-02-01