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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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Main Authors: Can Ficicioglu (Author), Rebecca C. Ahrens-Nicklas (Author), Joshua Barch (Author), Sanmati R. Cuddapah (Author), Brenda S. DiBoscio (Author), James C. DiPerna (Author), Patricia L. Gordon (Author), Nadene Henderson (Author), Caitlin Menello (Author), Nicole Luongo (Author), Damara Ortiz (Author), Rui Xiao (Author)
Format: Book
Published: MDPI AG, 2020-11-01T00:00:00Z.
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