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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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Detalles Bibliográficos
Autores principales: Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151013/
https://www.ncbi.nlm.nih.gov/pubmed/32235807
http://dx.doi.org/10.3390/diagnostics10030172