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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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Détails bibliographiques
Auteurs principaux: Gelb, Michael H., Turecek, Frantisek, Scott, C. Ron, Chamoles, Nestor A.
Format: Artigo
Langue:Inglês
Publié: 2006
Sujets:
Accès en ligne: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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