Nalaganje...
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...
Shranjeno v:
| izdano v: | Int J Neonatal Screen |
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| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
MDPI
2020
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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