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Newborn Screening for Pompe Disease: Pennsylvania Experience

Published: 13 November 2020
 by  MDPI AG
International Journal of Neonatal Screening , Volume 6; doi:10.3390/ijns6040089

Abstract: Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is performed as a second-tier test in all newborns with low GAA enzyme activity [
Keywords: Newborn Screening / Pompe Disease / Alpha glucosidase

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