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. 2017 Jun 12;12:80–81. doi: 10.1016/j.ymgmr.2017.05.004

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This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Fig. 1 — (left) Fluorometer plate reader response for assay of GAA in DBS using the fluorometric assay with 4MU substrate for blank (filled circles), clinically confirmed infantile-onset Pompe patients (IOPD, open circles), potential late-onset Pompe patients (pLOPD, triangles), and pseudodeficiencies (squares). (middle) MS/MS assay of GAA on the same set of DBS (product-to-internal standard ion count ratio). (right) Expanded MS/MS study showing that 96% of 230 pseudodeficiency DBS separate from the IOPD/pLOPD cohort (GAA activity in mole/h/L). From [8].