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Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA
Pančík, Filip; Pakanová, Zuzana; Nemčovič, Marek; Květoň, Filip; Šalingová, Anna; Hlavatá, Anna; Kozmon, Stanislav; Baráth, Peter.
Afiliación
  • Pančík, Filip; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
  • Pakanová, Zuzana; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
  • Nemčovič, Marek; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
  • Květoň, Filip; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
  • Šalingová, Anna; Centre for Inherited Metabolic Disorders. National Institute of Childrens Diseases. Bratislava. SK
  • Hlavatá, Anna; Comenius University in Bratislava. Faculty of Medicine. National Institute of Childrens Diseases. Bratislava. SK
  • Kozmon, Stanislav; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
  • Baráth, Peter; Centre of Glycomics. Institute of Chemistry. Slovak Academy of Sciences. Bratislava. SK
J. inborn errors metab. screen ; 11: e2022022, 2023. tab, graf
Article en En | LILACS-Express | LILACS | ID: biblio-1421994
Biblioteca responsable: BR1.1
ABSTRACT
Abstract Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N-sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS IIIA diagnostics usually constitute of selective screening, based on the analysis of urinary glycosaminoglycans, further enzymatic assays in leukocytes, and mutation analysis. Nowadays, some LSDs, including mucopolysaccharidoses, can be precisely diagnosed by mass spectrometry-based techniques. Up to this date, there are no comprehensive studies of MPS IIIA diagnostics by MALDI-TOF analysis of free oligosaccharides in urine published. In the presented work, MALDI-TOF/TOF analysis of permethylated oligosaccharides was performed to obtain the set of glyco-biomarkers that together form the specific fingerprint of this disease. Early and accurate diagnostics of MPS IIIA is crucial to stabilize the progressive cellular damage and improve the overall well-being of patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS Tipo de estudio: Diagnostic_studies Idioma: En Revista: J. inborn errors metab. screen Asunto de la revista: Medicina Cl¡nica / Patologia Año: 2023 Tipo del documento: Article / Project document País de afiliación: Eslovaquia Pais de publicación: Brasil
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS Tipo de estudio: Diagnostic_studies Idioma: En Revista: J. inborn errors metab. screen Asunto de la revista: Medicina Cl¡nica / Patologia Año: 2023 Tipo del documento: Article / Project document País de afiliación: Eslovaquia Pais de publicación: Brasil