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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| 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 |