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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Detalles Bibliográficos
Autores principales: Martin, Monica M., Wilson, Ryan, Caggana, Michele, Orsini, Joseph J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569953/
https://www.ncbi.nlm.nih.gov/pubmed/33239591
http://dx.doi.org/10.3390/ijns6030065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569953/
https://www.ncbi.nlm.nih.gov/pubmed/33239591
http://dx.doi.org/10.3390/ijns6030065

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