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Table 2 Methods of diagnosis for late onset Pompe disease in China versus the rest of world

From: Characteristics of Pompe disease in China: a report from the Pompe registry

Variable, n (%) China (n = 59) Rest of the world (n = 1180)
Number of diagnostic methods used
 One method 29 (49.2) 532 (45.1)
 Greater than one method (DNA/enzyme/other) 27 (45.8) 599 (50.8)
Diagnostic methodsa
 Enzyme assay 47 (79.7) 999 (84.7)
 Dry blood spot 22 (46.8) 247 (24.7)
 Other blood-based assay 13 (27.7) 455 (45.5)
 Fibroblast < 5 203 (20.3)
 Muscle < 5 314 (31.4)
 Unknown/other < 5 42 (4.2)
 DNA analysis, n (%) 36 (61.0) 731 (61.9)
 Not reported, n (%) < 5 49 (4.2)
  1. aPatients may report multiple methods of diagnosis, including multiple types of enzyme assays