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Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry

Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases. Specifically, a defect in iduronate-2-sulfatase (ID2S) leads to MPS II, whereas N-acetylgalactosam...

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Detalles Bibliográficos
Autores principales: Mashima, Ryuichi, Ohira, Mari, Okuyama, Torayuki, Tatsumi, Akiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758840/
https://www.ncbi.nlm.nih.gov/pubmed/29326871
http://dx.doi.org/10.1016/j.ymgmr.2017.12.001