Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

We report a new assay of N-acetylgalactosamine-4-sulfatase (aryl sulfatase B) activity in dried blood spots (DBS) for the early detection of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in newborn screening. The assay uses a synthetic substrate consisting of N-acetylgalactosamine-4-sulfate moi...

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Autores principales: Duffey, Trisha A., Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2980560/
https://ncbi.nlm.nih.gov/pubmed/20961069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac102090v
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