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...
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: | |
Online Access: | https://www.mdpi.com/2075-4418/10/3/172 |
Similar Items
-
Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses
by: Shunji Tomatsu, et al.
Published: (2014-08-01) -
Epidemiology of Mucopolysaccharidoses Update
by: Betul Celik, et al.
Published: (2021-02-01) -
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
by: Juliana Alves Josahkian, et al.
Published: (2021-01-01) -
Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
by: Nivethitha Arunkumar, et al.
Published: (2021-07-01) -
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model
by: Francesca D’Avanzo, et al.
Published: (2023-03-01)