CLSI NBS07-Ed1 (R2022) – Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid alpha-Glucosidase Activity Assays, 1st Edition, NBS07Ed1E
This report discusses the detection of Pompe disease (PD) by population-based newborn screening using dried blood spot specimens to measure acid α-glucosidase enzyme activity. Classic infantile-onset PD is a lethal disorder that is not evident at birth, and therapy effectiveness is improved by presymptomatic detection.
