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Newborn Screening for Pompe Disease: Pennsylvania Experience

13 Nov 2020

Abstract excerpt

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 [<2.10 micromole/L/h]. A total of 115...

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PMID: 33202836
DOI: 10.3390/ijns6040089

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