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Newborn Screening for Pompe Disease: Pennsylvania Experience

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 perfor...

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Sparad:
Huvudupphov: Can Ficicioglu, 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
Materialtyp: Artigo
Språk:Inglês
Utgiven: MDPI AG 2020-11-01
Serie:International Journal of Neonatal Screening
Ämnen:
Pompe disease
newborn screening
alpha glucosidase
Länkar:https://www.mdpi.com/2409-515X/6/4/89
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