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Lessons Learned from Pompe Disease Newborn Screening and Follow-up

Sciprofile linkTracy L. Klug, Sciprofile linkLori B. Swartz, Sciprofile linkJon Washburn, Sciprofile linkCandice Brannen, Sciprofile linkJami L. Kiesling
Published: 14 February 2020
 by  MDPI
International Journal of Neonatal Screening , Volume 6; doi:10.3390/ijns6010011

Abstract: In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services. Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up.
Keywords: Newborn Screening / Follow-up / Pompe Disease / Pseudodeficiency

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