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

• Main Authors: Barbara K. Burton (Author), Joel Charrow (Author), George E. Hoganson (Author), Julie Fleischer (Author), Dorothy K. Grange (Author), Stephen R. Braddock (Author), Lauren Hitchins (Author), Rachel Hickey (Author), Katherine M. Christensen (Author), Daniel Groeppner (Author), Heather Shryock (Author), Pamela Smith (Author), Rong Shao (Author), Khaja Basheeruddin (Author)
• Format: Book
• Published: MDPI AG, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...