Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder...

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Detalles Bibliográficos
Autores principales: Burton, Barbara K., Charrow, Joel, Hoganson, George E., Fleischer, Julie, Grange, Dorothy K., Braddock, Stephen R., Hitchins, Lauren, Hickey, Rachel, Christensen, Katherine M., Groepper, Daniel, Shryock, Heather, Smith, Pamela, Shao, Rong, Basheeruddin, Khaja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422983/
https://www.ncbi.nlm.nih.gov/pubmed/33073003
http://dx.doi.org/10.3390/ijns6010004

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