Patient | Age [years] | Sex | Mutation | Lyso-Gb3 [ng/ml] | ERT1 |
---|---|---|---|---|---|
1 | 32 | f | p.N320I | 4.2 | noa |
2 | 56.9 | f | c.718_719delAA | 10.0 | agalsidase alfa for 123 mo |
3 | 26.7 | m | c.718_719delAA | 26.6 | agalsidase beta for 14 mob |
4 | 27.8 | m | p.R227X | 19.7 | agalsidase alfa for 96 mo |
5 | 23.1 | m | p.N215S | 2.8 | no |
6 | 52.9 | f | p.N215S | 1.6 | no |
7 | 11.9 | m | p.D313Y | 0.5 | no |
8 | 42 | f | p.D313Y | 0.5 | agalsidase alfa for 23 mo |
9 | 40 | m | p.Q327L | 24.0 | agalsidase alfa for 92 mo |
10 | 34 | m | c.717_718delAA | 85.8 | agalsidase alfa for 80 mo |
11 | 57.2 | f | c.717_718delAA | n.a. | agalsidase alfa for 72 mo |
12 | 58.6 | m | p.E341K | 33.9 | agalsidase beta for 28 mo |
13 | 26.5 | f | p.D313Y | 0.6 | agalsidase alfa for 30 mo |
14 | 50.7 | f | p.D313Y | 3.9 | agalsidase alfa for 32 mo |
15 | 30.6 | f | p.D313Y | 0.6 | no |
16 | 65.3 | m | p.N215S | 5.5 | agalsidase beta for 12 mo |
17 | 48.7 | f | c.718_719delAA | 6.3 | agalsidase alfa for 25 mo |
18 | 56.4 | m | p.I384N | 20.6 | agalsidase alfa for 120 mo |
19 | 39.3 | f | p.D313Y | 0.7 | agalsidase alfa for 7 mo |
20 | 11.2 | m | p.D313Y | 0.7 | no |
21 | 53 | f | c.1277_1278delAA | 11.8 | agalsidase alfa for 47 mo |
22 | 51.6 | m | p.P205T | 28.9 | agalsidase alfa for 28 mo |
23 | 55.1 | m | p.A143T | 0.6 | no |
24 | 59.9 | f | p.Q327L | 6.9 | agalsidase alfa for 124 mo |
25 | 37.6 | m | p.R227Q | 36.4 | agalsidase alfa for 118 mo |
26 | 33 | f | p.E341K | 1.6 | no |
27 | 44.8 | m | p.L89del | 107.0 | no |