Newborn Screening for Pompe Disease: Pennsylvania Experience
Can Ficicioglu Md
,
Rebecca C. Ahrens‐Nicklas
,
Joshua Barch
,
Sanmati R. Cuddapah
,
Brenda S. DiBoscio
,
James C. DiPerna
,
Patricia L. Gordon
,
Nadene Henderson
,
Caitlin Menello
,
Nicole Luongo
,
Damara Ortiz
,
Rui Xiao
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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