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- Tracy L. Klug
- Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA
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- Lori B. Swartz
- Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA
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- Jon Washburn
- Baebies, Inc., P.O. Box 14403, Durham, NC 27709, USA
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- Candice Brannen
- Baebies, Inc., P.O. Box 14403, Durham, NC 27709, USA
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- Jami L. Kiesling
- Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA
説明
<jats:p>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.</jats:p>
収録刊行物
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- International Journal of Neonatal Screening
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International Journal of Neonatal Screening 6 (1), 11-, 2020-02-14
MDPI AG
