Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders

BACKGROUND: We sought to modify a previously published tandem mass spectrometry method of screening for 5 lysosomal storage disorders (LSDs) in order to make it better suited for high-throughput newborn screening. METHODS: Two 3-mm dried blood spot (DBS) punches were incubated, each with a different...

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Hauptverfasser: Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3443687/
https://ncbi.nlm.nih.gov/pubmed/22548856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2012.04.012
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