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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
  1. Table 1. Juv - juvenile