{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:47:18Z","timestamp":1788306438117,"version":"build-2803163510"},"reference-count":50,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,7,1]]},"abstract":"<jats:p>Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good candidate for NBS. Because decisions regarding which diseases should be included in NBS panels are made regionally and locally, programs and efforts for NBS for Pompe disease have been inconsistent both in the United States and globally. In this article, published in the \u201cNewborn Screening, Diagnosis, and Treatment for Pompe Disease\u201d guidance supplement, the Pompe Disease Newborn Screening Working Group, an international group of experts in both NBS and Pompe disease, review the methods used for NBS for Pompe disease and summarize results of current and ongoing NBS programs in the United States and other countries. Challenges and potential drawbacks associated with NBS also are discussed.<\/jats:p>","DOI":"10.1542\/peds.2016-0280c","type":"journal-article","created":{"date-parts":[[2017,6,30]],"date-time":"2017-06-30T04:36:03Z","timestamp":1498797363000},"page":"S4-S13","source":"Crossref","is-referenced-by-count":61,"title":["Newborn Screening for Pompe Disease"],"prefix":"10.1542","volume":"140","author":[{"given":"Olaf A.","family":"Bodamer","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Ronald","family":"Scott","sequence":"additional","affiliation":[{"name":"Division of Molecular Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA) and Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Pompe Disease Newborn Screening Working Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2017,7,1]]},"reference":[{"issue":"1","key":"2021121007440231400_B1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31315","article-title":"Newborn screening for Pompe disease: an update, 2011.","volume":"160C","author":"Burton","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"3","key":"2021121007440231400_B2","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1053\/j.semperi.2015.03.005","article-title":"Newborn screening for lysosomal storage disorders.","volume":"39","author":"Matern","year":"2015","journal-title":"Semin Perinatol"},{"issue":"1","key":"2021121007440231400_B3","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/jpc.12817","article-title":"Fifty years of newborn screening.","volume":"51","author":"Wilcken","year":"2015","journal-title":"J Paediatr Child Health"},{"key":"2021121007440231400_B4","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1007\/PL00014247","article-title":"The introduction of newborn screening for phenylketonuria. 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Advisory committe on heritable disorders in newborns and children. Recommendations & responses from the HHS secretary. The addition of Pompe disease to the Recommended Uniform Screening Panel (RUSP). Secretary\u2019s final response RE committee\u2019s recommendation to add Pompe disease to the RUSP. March 02, 2015. Available at: www.hrsa.gov\/advisorycommittees\/mchbadvisory\/heritabledisorders\/recommendations\/index.html. 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