Table 1 Patient demographics
From: Analysis of voice quality in patients with late-onset Pompe disease
ID | Gender | Current age years | Age of first symptoms years | Age of diagnosis years | Years on ERT | Mutation | Form |
|---|---|---|---|---|---|---|---|
1 | F | 11.8 | no symptoms, family screening | 2 | 7 | IVS1-13T>G/c.2662G>T | Juv |
2 | M | 15.5 | no symptoms, family screening | 6 | 7 | IVS1-13T>G/c.2662G>T | Juv |
3 | F | 17.9 | 2 | 2.5 | 7 | IVS1-13T>G/c.307T>G | Juv |
4 | M | 25.6 | 6 | 15 | 7 | IVS1-13T>G/c.2662G>T | Juv |
5 | F | 8.3 | 0.5 | 2 | 6 | L291F, 871C>T/R600C, 1798C>T | Juv |
6 | F | 7.5 | 1 | 1.5 | 6.5 | 2495delCA (ex18)/2495delCA (ex18) | Juv |
7 | M | 8.5 | no symptoms, family screening | 0.6 | 6 | G377S c.2495_2496 delCA | Juv |
8 | F | 14.8 | 3 | 4 | 8 | C1129G>A/c.2495_2496 delCA | Juv |
9 | M | 17.8 | 3.5 | 4 | 7 | IVS1-13T>G/c.925G>A | Juv |
10 | F | 40 | 6 | 31 | 7 | c.364A>G/c.1796C>T | Adult |
11 | F | 31 | 7 | 25 | 7 | IVS1-13T>/C103G | Adult |
12 | M | 37.5 | 27 | 29 | 7 | c.364A>G/c.1796C>T | Adult |
13 | F | 39 | 25 | 34 | 3 | IVS1-13T>G/C103G, 307T>G | Adult |
14 | M | 46.5 | 35 | 40 | 7 | IVS1-13T>G/c.307T>G | Adult |
15 | F | 53.8 | 30 | 46 | 5.5 | IVS1-13T>G/525delT | Adult |
16 | M | 34.8 | 15 | 25 | 7 | IVS1-13T>G/c.307T>G | Adult |
17 | M | 53.8 | 33 | 48 | 8 | IVS1-13T>G/C103G, 307T>G | Adult |
18 | M | 37.8 | 28 | 32 | 5 | IVS1-13T>G/c.307T>G | Adult |
19 | F | 33.8 | 26 | 30 | 5 | IVS1-13T>G/c.307T>G | Adult |