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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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Detaylı Bibliyografya
Yayımlandı:Diagnostics (Basel)
Asıl Yazarlar: Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7151013/
https://ncbi.nlm.nih.gov/pubmed/32235807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10030172
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