A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

Abstract Background Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profi...

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Bibliographic Details
Main Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Oligosaccharides
Storage disorders
Pompe disease
Autophagy
Danon disease
Vici syndrome
Online Access:https://doi.org/10.1186/s13023-020-01662-8

Internet

https://doi.org/10.1186/s13023-020-01662-8

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