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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Bibliografische gegevens
Gepubliceerd in:Int J Neonatal Screen
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422983/
https://ncbi.nlm.nih.gov/pubmed/33073003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6010004
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