Table 1 Characteristics of the patients enrolled in the study
Patient ID | Phenotype | Type of mutation | Age at diagnosis | Age at start of ERT |
|---|---|---|---|---|
Group A | ||||
A1 | Severe | Intragenic deletion | 0.9 | 1.6 |
A2 | Severe | Missense | 1.0 | 1.6 |
A3 | Severe | Missense | 2.2 | 2.3 |
A4 | Attenuated | Small deletion | 1.8 | 2.4 |
A5 | Attenuated | Splicing mutation | 2.4 | 2.6 |
A6 | Severe | Small deletion | 2.8 | 2.9 |
A7 | Attenuated | Two in cis missense | 1.3 | 3.3 |
A8 | Severe | Missense | 2.8 | 3.4 |
A9 | Severe | Splicing mutation | 3.2 | 3.4 |
A10 | Attenuated | Two in cis missense | n.a. | 3.7 |
A11 | Severe | Missense | 3.5 | 3.7 |
A12 | Severe | Missense | 4.4 | 4.7 |
A13 | Severe | Missense | 4.7 | 5.0 |
Group B | ||||
B1 | Severe | Small deletion | 2.5 | 5.3 |
B2 | Attenuated | Nonsense | n.a. | 6.9 |
B3 | Severe | Missense | 2.2 | 7.7 |
B4 | Severe | Recombination | 3.1 | 8.0 |
B5 | Attenuated | Nonsense | 4.5 | 9.0 |
B6 | Severe | Missense | 7.1 | 9.2 |
B7 | Severe | Missense | 7.8 | 11.4 |
Group C | ||||
C1 | Severe | Missense | 4.3 | 12.7 |
C2 | Severe | Nonsense | 4.0 | 15.8 |
C3 | Attenuated | Missense | 3.8 | 16.3 |
C4 | Attenuated | n.i. | 6.8 | 16.7 |
C5 | Attenuated | Missense | 15.5 | 18.7 |
C6 | Attenuated | Missense | 15.2 | 18.8 |
C7 | Severe | Nonsense | 4.1 | 27.0 |