Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

We have developed a tandem mass spectrometry based assay of iduronate-2-sulfatase (IdS) activity for the neonatal detection of mucopolysaccharidosis II (MPS-II, Hunter Syndrome). The assay uses a newly designed synthetic substrate (IdS-S) consisting of α-L-iduronate-2-sulfate, which is glycosidicall...

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Detalhes bibliográficos
Main Authors: Wolfe, Brian J., Blanchard, Sophie, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3442111/
https://ncbi.nlm.nih.gov/pubmed/21192662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac102777s
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