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A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity a...

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Detalles Bibliográficos
Autores principales: Alharbi, Fahad J., Geberhiwot, Tarekegn, Hughes, Derralynn A., Ward, Douglas G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792351/
https://www.ncbi.nlm.nih.gov/pubmed/26797827
http://dx.doi.org/10.1007/s13361-015-1318-4