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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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
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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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author 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
author_facet 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
author_sort Burton, Barbara K.
collection PubMed
description 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.
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spelling pubmed-74229832020-10-15 Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants 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 Int J Neonatal Screen Article 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. MDPI 2020-01-21 /pmc/articles/PMC7422983/ /pubmed/33073003 http://dx.doi.org/10.3390/ijns6010004 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title_full Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title_fullStr Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title_full_unstemmed Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title_short Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
title_sort newborn screening for pompe disease in illinois: experience with 684,290 infants
topic Article
url 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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