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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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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2010
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| Teme: | |
| Online dostop: | 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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