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High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening

BACKGROUND: There is interest in newborn screening of lysosomal storage diseases (LSDs) because of the availability of treatments. Pilot studies have used tandem mass spectrometry with flow injection of samples to achieve multiplex detection of enzyme products. We report a multiplexing method of 9 e...

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Detalhes bibliográficos
Publicado no:Clin Chem
Main Authors: Spacil, Zdenek, Tatipaka, Haribabu, Barcenas, Mariana, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4737435/
https://ncbi.nlm.nih.gov/pubmed/23315484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2012.189936
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