|
Sex, n (%)
|
233
| |
| |
Female
| |
118 (50.6)
|
| |
Male
| |
115 (49.4)
|
|
Age, years, median (range) [IQR]
| | |
| |
Diagnosis
|
233
|
14.5 (0.5-67.5) [8.4;34.0]
|
| |
Initiation of ERT
|
233
|
34.3 (1.0-76.0) [20.6;48.0]
|
|
Patients <15 at diagnosis, n (%)
|
233
|
87 (62.7)
|
|
Patients <15 at initiation of ERT, n (%)
|
233
|
41 (17.6)
|
|
Type, n (%)
|
233
| |
| |
1
| |
226 (97.0)
|
| |
3
| |
7 (3.0)
|
|
Genotype, n (%)
| |
194
| |
| |
N370S/N370S
| |
26 (13.4)
|
| |
N370S/L444P
| |
31 (15.9)
|
| |
L444P/L444P
| |
4 (2.1)
|
| |
N370S/Other
| |
100 (51.5)
|
| |
L444P/Other
| |
10 (5.2)
|
| |
Other/Other
| |
23 (11.9)
|
|
Initial test leading to GD diagnosis†, n (%)**
|
153
| |
| |
Enzyme assay
| |
34 (22.2)
|
| |
GBA-gene sequencing
| |
1 (0.7)
|
| |
Bone-marrow aspiration
| |
79 (51.6)
|
| |
Bone-marrow biopsy
| |
13 (8.5)
|
| |
Bone biopsy
| |
5 (3.3)
|
| |
Liver biopsy
| |
3 (1.9)
|
| |
Spleen histology
| |
17 (11.1)
|
| |
Other
| |
1 (0.7)
|
|
Splenectomy at initiation of ERT, n (%)
|
233
|
61 (26.2)
|
|
Patients with bone events, n (%)
| | |
| |
At initiation of ERT
|
233
|
65 (27.9)
|
| |
On ERT
|
233
|
33 (14.1)
|
|
Initial dose, n (%)
| |
213
| |
| |
< 90 IU/kg/month
| |
28 (13.1)
|
| |
90- 120 IU/kg/month
| |
174 (81.7)
|
| |
> 120 IU/kg/month
| |
11 (5.2)
|
