Table 4 Case mix of this study and the E-IMD study
Disease name | E-IMD study Patients (n, %) | E-IMD study, age of diagnosis below 16 yearsa Patients (n, %) | This study Patients (n, %) |
|---|---|---|---|
NAGS-D | 9 (2%) | 7 (2%) | 0 |
CPS1-D | 21 (5%) | 20 (5%) | 8 (16%) |
mOTC-D | 109 (24%) | 95 (25%) | 17 (34%) |
fOTC-D | 146 (32%) | 98 (26%) | 5 (10%) |
ASS-D | 87 (19%) | 82 (22%) | 10 (20%) |
ASL-D | 61 (13%) | 56 (15%) | 7 (14%) |
ARG1-D | 12 (3%) | 12 (3%) | 1 (2%) |
HHH syndrome | 11 (2%) | 9 (2%) | 1 (2%) |
Citrin-Db | n/a | n/a | 1 (2%) |
Total | 456 (100%) | 379 (100%) | 50 (100%) |