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Lessons Learned from Pompe Disease Newborn Screening and Follow-up

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 o...

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Detalles Bibliográficos
Autores principales: Klug, Tracy L., Swartz, Lori B., Washburn, Jon, Brannen, Candice, Kiesling, Jami L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422965/
https://www.ncbi.nlm.nih.gov/pubmed/33073009
http://dx.doi.org/10.3390/ijns6010011
Descripción
Sumario: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.