Multiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform

PURPOSE: New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases....

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Detalhes bibliográficos
Main Authors: Sista, Ramakrishna S., Wang, Tong, Wu, Ning, Graham, Carrie, Eckhardt, Allen, Winger, Theodore, Srinivasan, Vijay, Bali, Deeksha, Millington, David S., Pamula, Vamsee K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3926752/
https://ncbi.nlm.nih.gov/pubmed/23660237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2013.05.001
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