{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:51:36Z","timestamp":1787964696253,"version":"build-2784847793"},"reference-count":18,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T00:00:00Z","timestamp":1579564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>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 were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.<\/jats:p>","DOI":"10.3390\/ijns6010004","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T11:25:59Z","timestamp":1579605959000},"page":"4","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants"],"prefix":"10.3390","volume":"6","author":[{"given":"Barbara K.","family":"Burton","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA"},{"name":"Department of Pediatrics, Ann and Robert H. 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