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Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.
Kelkel, Marcel A; Boutin, Michel; Curado, Filipa; Bauer, Peter; Beauregard-Lacroix, Éliane; Mercier, François E; Maranda, Bruno; Menkovic, Iskren; Martineau, Tristan; Auray-Blais, Christiane.
Afiliação
  • 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.
Bioanalysis ; 14(5): 289-306, 2022 Mar.
Article em En | MEDLINE | ID: mdl-35118880
ABSTRACT

Background:

Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Methods &

results:

Urine samples from controls and patients were purified by solid-phase extraction prior to the analysis by ultra-high-performance liquid chromatography (UPLC) combined with MS/MS. A UPLC-MS/MS method for the analysis of 21 urinary creatinine-normalized biomarkers for eight diseases was developed and validated.

Conclusion:

Considering the growing demand to identify patients with different sphingolipidoses early and reliably, this methodology will be applied for high-risk screening to target efficiently patients with various sphingolipidoses.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espectrometria de Massas em Tandem / Extração em Fase Sólida Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Bioanalysis Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espectrometria de Massas em Tandem / Extração em Fase Sólida Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Bioanalysis Ano de publicação: 2022 Tipo de documento: Article