Diagnosis of Mucopolysaccharidoses

Diagnosis of Mucopolysaccharidoses

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme...

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Bibliographic Details
Main Authors: Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Diagnostics
Subjects:
mucopolysaccharidoses
glycosaminoglycans
enzyme replacement therapy
tandem mass spectrometry
newborn screening.
Online Access:https://www.mdpi.com/2075-4418/10/3/172

Internet

https://www.mdpi.com/2075-4418/10/3/172

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