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The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease

New York uses a two-tier assay to screen newborns for Krabbe disease and Pompe disease. Individual enzyme activities are measured in the first-tier, and specimens from newborns with low activity are reflexed to second tier Sanger sequencing of the associated gene. Using only this two-tiered approach...

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Detalhes bibliográficos
Publicado no:Int J Neonatal Screen
Main Authors: Martin, Monica M., Wilson, Ryan, Caggana, Michele, Orsini, Joseph J.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7569953/
https://ncbi.nlm.nih.gov/pubmed/33239591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6030065
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