Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis IVA

BACKGROUND: Treatments are being developed for an increasing number of mucopolysaccharidoses, and early diagnosis is expected to be necessary to maximize the benefits of therapy. Therefore, we developed an assay for N-acetylgalactosamine-6-sulfate sulfatase (GALNS), the enzyme deficient in mucopolys...

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Huvudupphovsmän: Khaliq, Tanvir, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2010
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3442110/
https://ncbi.nlm.nih.gov/pubmed/21030685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2010.149880
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