Analysis of Globotriaosylceramide (Gb 3 ) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.

Autor: Boutin M; Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada., Maranda B; Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada., Waters PJ; Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

Publikováno v: Current protocols [Curr Protoc] 2024 Jun; Vol. 4 (6), pp. e1087.

Safety and efficacy of inhaled IBIO123 for mild-to-moderate COVID-19: a randomised, double-blind, dose-ascending, placebo-controlled, phase 1/2 trial.

Autor: Maranda B; Immune Biosolutions, Sherbrooke, QC, Canada. Electronic address: bmaranda@ibiosolutions.com., Labbé SM; Immune Biosolutions, Sherbrooke, QC, Canada., Lurquin M; Immune Biosolutions, Sherbrooke, QC, Canada., Brabant P; Immune Biosolutions, Sherbrooke, QC, Canada., Fugère A; Immune Biosolutions, Sherbrooke, QC, Canada., Larrivée JF; Immune Biosolutions, Sherbrooke, QC, Canada., Grbic D; Immune Biosolutions, Sherbrooke, QC, Canada., Leroux A; Immune Biosolutions, Sherbrooke, QC, Canada., Leduc F; Immune Biosolutions, Sherbrooke, QC, Canada., Finzi A; Centre de Recherche du CHUM (CRCHUM), Montréal, QC, Canada; Département de Microbiologie, Infectiologie et Immunologie, Université de Montréal, Montréal, QC, Canada., Gaudreau S; Immune Biosolutions, Sherbrooke, QC, Canada., Swart Y; FARMOVS, Bloemfontein, South Africa.

Publikováno v: The Lancet. Infectious diseases [Lancet Infect Dis] 2024 Jan; Vol. 24 (1), pp. 25-35. Date of Electronic Publication: 2023 Aug 21.

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Autor: Dhar, S.U., Scaglia, F., Li, F.-Y., Smith, L., Barshop, B.A., Eng, C.M., Haas, R.H., Hunter, J.V., Lotze, T., Maranda, B., Willis, M., Abdenur, J.E., Chen, E., O’Brien, W., Wong, L-J.C.

Publikováno v: In Molecular Genetics and Metabolism 2009 96(1):38-43

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.

Autor: Boutin M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Lavoie P; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Beaudon M; Institut de Pharmacologie, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Kabala Ntumba G; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Bichet DG; Research Center, Hôpital du Sacré-Coeur de Montreal, University of Montreal and Nephrology Service, Montreal, QC H4J 1C5, Canada., Maranda B; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 06; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 06.

Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.

Autor: Kelkel MA; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada., Boutin M; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada., Curado F; Department of Clinical Studies, Centogene GmbH, 18055, Rostock, Germany., Bauer P; Department of Clinical Studies, Centogene GmbH, 18055, Rostock, Germany., Beauregard-Lacroix É; Department of Pediatrics, Centre hospitalier universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, QC, H3T 1C5, Canada., Mercier FE; Department of Medicine, Divisions of Experimental Medicine & Hematology, Faculty of Medicine, McGill University, Lady Davis Institute for Medical Research, Jewish General Hospital, 3755, Côte Sainte-Catherine, Montreal, QC, H3T 1E2, Canada., Maranda B; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada., Menkovic I; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada., Martineau T; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada., Auray-Blais C; Department of Pediatrics, Division of Medical Genetics, Centre de Recherche-CHUS, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada.

Publikováno v: Bioanalysis [Bioanalysis] 2022 Mar; Vol. 14 (5), pp. 289-306. Date of Electronic Publication: 2022 Feb 04.