New Search

Export article
Open Access

Lessons Learned from Pompe Disease Newborn Screening and Follow-up

Published: 14 February 2020
 by  MDPI AG
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

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

Share this article

Click here to see the statistics on "International Journal of Neonatal Screening" .
References (11)
    Cited by 1 articles
      Back to Top Top