Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected tissues accumulate undegraded GAGs in cell ly...

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Bibliographic Details
Main Authors: Francesca D’Avanzo, Alessandra Zanetti, Andrea Dardis, Maurizio Scarpa, Nicola Volpi, Francesco Gatto, Rosella Tomanin
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Biomolecules
Subjects:
mucopolysaccharidoses
diagnosis
mass spectrometry
glycosaminoglycans
urine
GAGome
Online Access:https://www.mdpi.com/2218-273X/13/3/532

Internet

https://www.mdpi.com/2218-273X/13/3/532

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