Klug Tracy L, Swartz Lori B, Washburn Jon, Brannen Candice, Kiesling Jami L
Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA.
Baebies, Inc., P.O. Box 14403, Durham, NC 27709, USA.
Int J Neonatal Screen. 2020 Feb 14;6(1):11. doi: 10.3390/ijns6010011. eCollection 2020 Mar.
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.
2015年，庞贝病成为美国卫生与公众服务部部长建议进行普遍新生儿筛查的首个溶酶体贮积症。美国20个州以及世界上其他几个国家已开展庞贝病新生儿筛查。庞贝病迟发型疾病表型和假缺陷等位基因的发生率高于最初预期，在进行庞贝病新生儿筛查时必须考虑这些因素。本报告概述了密苏里州公共卫生实验室六年的庞贝病新生儿筛查及随访数据。
