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Publications by authors named "Joshua Barch"

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Newborn Screening for Pompe Disease: Pennsylvania Experience.
Can Ficicioglu Rebecca C Ahrens-Nicklas Joshua Barch Sanmati R Cuddapah Brenda S DiBoscio

Int J Neonatal Screen

November 2020

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.

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