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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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Hlavní autoři: Spáčil, Zdeněk, Elliott, Susan, Reeber, Steven L., Gelb, Michael H., Scott, C. Ronald, Tureček, František
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup: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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