Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

@article{Gelb2006DirectMA,
  title={Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders},
  author={Michael H Gelb and Franti{\vs}ek Ture{\vc}ek and Cheryl R Scott and Nestor A. Chamoles},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={397-404}
}
Tandem mass spectrometry is currently used in newborn screening programmes to quantify the level of amino acids and acylcarnitines in dried blood spots for detection of metabolites associated with treatable diseases. We have developed assays for lysosomal enzymes in rehydrated dried blood spots in which a set of substrates is added and the set of corresponding enzymatic products are quantified using tandem mass spectrometry with the aid of mass-differentiated internal standards. We have… CONTINUE READING

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