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Lessons Learned from Pompe Disease Newborn Screening and Follow-up

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Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA
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Baebies, Inc., P.O. Box 14403, Durham, NC 27709, USA
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Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 11; https://doi.org/10.3390/ijns6010011
Received: 21 January 2020 / Revised: 10 February 2020 / Accepted: 11 February 2020 / Published: 14 February 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
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. View Full-Text
Keywords: Pompe disease; newborn screening; follow-up; pseudodeficiency Pompe disease; newborn screening; follow-up; pseudodeficiency
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Klug, T.L.; Swartz, L.B.; Washburn, J.; Brannen, C.; Kiesling, J.L. Lessons Learned from Pompe Disease Newborn Screening and Follow-up. Int. J. Neonatal Screen. 2020, 6, 11.

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