| All patients n = 48 | Male patients n = 15 | non-ERT n = 2 | ERT n = 13 | non-ERT versus ERT, p-value | Female patients n = 33 | non-ERT n = 16 | ERT n = 17 | non-ERT versus ERT, p-value |
---|---|---|---|---|---|---|---|---|---|
Age, years median (range) | 47 (12-73) | 47 (21-66) | 47.5 (46-49) | 47 (21-66) | 1.00 | 45 (12-73) | 25.5 (12-52) | 51 (22-73) | 0.00 |
Enzyme activity, μmol/l/h median (range) | 14 (0.0-59) | 1.2 (0.0-6.4) | 2.0 (1.5-2.5) | 0.7 (0.0-6.4) | 0.20 | 19.6 (4.1-59.3) | 20 (13-51) | 19 (4.1-59) | 0.51 |
MSSI sum score median (range) | 15.5 (1-47) | 25 (5-47) | 11 (5-17) | 27 (10-47) | 0.23 | 13 (1-35) | 7 (1-18) | 23 (3-35) | 0.00 |
   general score median (range) | 4 (0-11) | 5 (2-11) | 3.5 (2-5) | 5 (2-11) | 0.31 | 4 (0-8) | 2 (0-5) | 5 (1-8) | 0.00 |
   neurological score median (range) | 4 (0-13) | 6 (0-13) | 0.5 (0-1) | 6 (3-13) | 0.02 | 3 (0-12) | 1.5 (0-7) | 4 (1-12) | 0.04 |
   cardiovascular score median (range) | 6.5 (0-15) | 9 (1-15) | 7 (3-11) | 9 (1-15) | 0.69 | 4 (0-15) | 1.5 (0-11) | 9 (0-15) | 0.07 |
   renal score median (range) | 0 (0-12) | 0 (0-12) | 0 | 0 (0-12) | 0.38 | 0 (0-12) | 0 | 4 (0-12) | 0.00 |
VAS most severe pain median (range) | 3 (0-9) | 4 (0-8) | 1 | 4 (0-8) | 0.31 | 2 (0-9) | 0.5 (0-8) | 5 (0-9) | 0.20 |
 | n = 36 | n = 10 | n = 2 | n = 8 |  | n = 26 | n = 9 | n = 17 |  |
Systolic BP, mmHg mean (SD) | 118 (12) | 114 (13) | 115 (20) | 113 (13) | 0.88 | 120 (11) | 115 (8) | 123 (12) | 0.11 |
Diastolic BP, mmHg mean (SD) | 71 (7) | 71 (9) | 74 (16) | 70 (8) | 0.68 | 71 (7) | 70 (9) | 72 (5) | 0.46 |
Heart rate, bpm mean (SD) | 65 (12) | 68 (13) | 61 (4) | 70 (14) | 0.40 | 64 (12) | 66 (13) | 63 (11) | 0.47 |