Table 8 Summary of clinical and baseline biochemical characteristics
Pt # | Age at diagnosis (years) | Phenotype | Plasma enzyme (nmol/mg plasma/4 h) | Plasma enzyme (uM/hr) | Urine GAG (mg/g Crea) | Urine HS (ng/ug Crea) | Urine DS (ng/ug Crea) | On ERT | Outcome |
|---|---|---|---|---|---|---|---|---|---|
1 | 1.8 | Severe | 0.01 | 891.6 | Yes | Alive | |||
2 | 3.75 | Severe | 0.17 | Yes | Alive | ||||
3 | 9 | Attenuated | 0.75 | 363.3 | Yes | Alive | |||
4 | 8 | Attenuated | 0.31 | 629.73 | Yes | Alive | |||
5 | 7 | Attenuated | 0.91 | 302.04 | Yes | Alive | |||
6 | 5 | Attenuated | 0.01 | 443.76 | Yes | Alive | |||
7 | 6 | Severe | 0.12 | 567.6 | Yes | Alive | |||
8 | 7 | Severe | 0.07 | 690.65 | Yes | Alive | |||
9 | 15 | Severe | 0.04 | 27.53 | 4.47 | No | Alive | ||
10 | 10 | Attenuated | 0.31 | 145.35 | No | Alive | |||
11 | 0.58 | Severe | 0.26 | 568.56 | No | Alive | |||
12 | 10 | Severe | 0.14 | 44.27 | 41.98 | No | Alive | ||
13 | 5 | Severe | 0.14 | 759.98 | No | Alive | |||
14 | 7 | Attenuated | 0.1 | 683.36 | No | Alive | |||
15 | 4 | Severe | 0.77 | 376.06 | No | Alive | |||
16 | 7 | Severe | 0.17 | 22.64 | 10.36 | No | Alive | ||
17 | 4 | Severe | 0.07 | 42.28 | 4.33 | No | Alive | ||
18 | 2 | Severe | 0.09 | 58.4 | 12.6 | No | Alive | ||
19 | 23 | Attenuated | 0.34 | No | Alive | ||||
20 | 13 | Severe | 0.04 | 14.85 | 31.76 | No | Alive | ||
21 | 9 | Severe | 0.06 | 20.8 | 45.8 | No | Alive | ||
22 | 2.5 | Severe | 0.11 | 54.66 | 31.67 | No | Alive | ||
23 | 3 | Severe | 0.09 | 53.13 | 21.42 | No | Alive | ||
24 | 4 | Severe | 1.96 | 339.87 | No | Alive | |||
25 | 7 | Severe | 0.11 | 20.16 | 7.8 | No | Alive | ||
26 | 5 | Severe | 472.73 | No | Alive | ||||
27 | 9 | Severe | 1.08 | 626.57 | No | Alive | |||
28 | 7 | Attenuated | 0.26 | 692.59 | No | Deceased | |||
29 | 3 | Severe | 0.93 | 485.0509 | No | Deceased | |||
30 | 7 | Severe | 0.53 | No | Deceased | ||||
31 | 7 | Severe | 0.742 | 778.6195 | No | Deceased | |||
32 | 5 | Severe | 1.1 | 238.0952 | No | Deceased | |||
33 | 6 | Severe | 1.08 | 126.1 | No | Deceased | |||
34 | 7 | Severe | 0.1 | 284.49 | No | Deceased | |||
35 | 14 | Severe | 0.94 | 743.35 | No | Deceased | |||
36 | 8 | Severe | 0.63 | 477.76 | No | Deceased | |||
37 | 4 | Severe | 0.525 | 911.4583 | No | Deceased | |||
38 | 6 | Severe | 2.34 | 535.221 | No | Deceased | |||
39 | 12 | Severe | 1.15 | 549.65 | No | Deceased | |||
40 | 6 | Severe | 0.01 | 517.45 | No | Deceased |