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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MDPI AG,
2020-08-01T00:00:00Z.
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