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.