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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Autores principales: Monica M. Martin (Autor), Ryan Wilson (Autor), Michele Caggana (Autor), Joseph J. Orsini (Autor)
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Publicado: MDPI AG, 2020-08-01T00:00:00Z.
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