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. Author manuscript; available in PMC: 2018 Jul 1.

Published in final edited form as: Clin Chem. 2017 Apr 27;63(7):1271–1277. doi: 10.1373/clinchem.2016.269027

(Top) GAA enzymatic activity measured in DBS by MS/MS (note the log scale). (Bottom) Same as top but covering the range 0-2 µmole/hr/L (linear scale). Carrier of Pompe were patients with one Pompe mutation allele and a wild type allele, carrier of pseudo were patients with at least one pseudodeficiency DNA change as one allele and wild type as the second allele, and pseudodeficiency were patients with at least one pseudodeficiency DNA change on both alleles.

(Top) GAA enzymatic activity measured in DBS by MS/MS (note the log scale). (Bottom) Same as top but covering the range 0-2 µmole/hr/L (linear scale). Carrier of Pompe were patients with one Pompe mutation allele and a wild type allele, carrier of pseudo were patients with at least one pseudodeficiency DNA change as one allele and wild type as the second allele, and pseudodeficiency were patients with at least one pseudodeficiency DNA change on both alleles.