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

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 re-hydrated dried blood spots in...

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Hlavní autoři: Gelb, Michael H., Turecek, Frantisek, Scott, C. Ron, Chamoles, Nestor A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2006
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2488386/
https://ncbi.nlm.nih.gov/pubmed/16763908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-006-0265-4
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