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Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases

We report a comparative study of triplex tandem mass spectrometry (MS/MS) based assays of lysosomal enzymes in dried blood spots for the early detection of Pompe, Fabry, and Hurler diseases in newborns. Four methods have been evaluated that differed in sample handling and the equipment used. A newly...

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Detalhes bibliográficos
Main Authors: Spáčil, Zdeněk, Elliott, Susan, Reeber, Steven L., Gelb, Michael H., Scott, C. Ronald, Tureček, František
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115456/
https://ncbi.nlm.nih.gov/pubmed/21548611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac200417u
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