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) |