Table 1.
Patient ID | GD1/3 | Genotype | Lyso-Gb1 before [ng/mL] | Lyso-Gb1 after [ng/mL] |
---|---|---|---|---|
7 | 1 | D438H/R87W | 42 | 41.4 |
31.2 | 34.9 | |||
20 | 1 | N370S/c.1085C>T | 50.6 | 47.9 |
28 | 1 | D448G/R202X | 54.3 | 51.2 |
55 | 50 | |||
32 | 1 | Unknown | 45.7 | 39.8 |
35 | 1 | N370S/L444P | 33.3 | 24.6 |
NEW PATIENT ID1 | 1 | N370S/N370S | 63 | 49.4 |
NEW PATIENT ID2 | 1 | N370S/L444P | 47.6 | 42.7 |
NEW PATIENT ID3 | 1 | N370S/ R202X | 43.9 | 33.2 |
NEW PATIENT ID4 | 1 | N370S/L444P | 47.8 | 27.1 |
NEW PATIENT ID5 | 1 | N370S/L444P | 546 | 471 |
NEW PATIENT ID6 | 1 | N370S/L444P | 563 | 469 |
NEW PATIENT ID7 | 1 | N370S/N370S | 44.6 | 38.5 |
NEW PATIENT ID8 | 1 | N370S/L444P | 34.4 | 25.1 |
NEW PATIENT ID9 | 1 | N370S/c.1085C>T | 47.9 | 46.9 |
26 | 1 | N370S/ R202X | 42.4 | 30.6 |
NEW PATIENT ID10 | 1 | N370S/c.1085C>T | 37.3 | 34.6 |
NEW PATIENT ID11 | 3 | L444P/L444P | 52.3 | 39.6 |
59 | 3 | L444P/L444P | 59.7 | 33.7 |
71 | 3 | L444P/L444P | 145 | 148 |
96.3 | 67.4 | |||
71.4 | 65 | |||
72 | 3 | L444P/L444P | 53.9 | 48.5 |
49.6 | 41.5 |