Table 2 Stage 2 Hurler and Hurler-Scheie patients
patient | Type | Dx age (y) | Yrs on ERT | Height (cm) | Weight (kg) | Enroll. Age (y) | ID (mg/kg) | Genotype | |
|---|---|---|---|---|---|---|---|---|---|
Allele 1 | Allele 2 | ||||||||
202 | H | 0.7 | 8 | 101 | 19.6 | 9.0 | 1 | p.W402X | p.W402X |
203 | H-S | 4.9 | 1.7 | 104 | 19.1 | 6.1 | 3 | p.R621X | het IVS9-12-4delCAGGCCCCG |
204 | H-S | 5.0 | 9 | 144 | 37.1 | 14.8 | 1 | p.R48del | p.P533R |
205 | H | 1.1 | 1.5 | 112 | 24.7 | 5.0 | 1 | c.494-1G>A | c.494-1G>A |
206a | H | 1.8 | 1 | 81 | 11.6 | 3.1 | 1 | p.W402X | p.W402X |
207 | H | 2.6 | 3 | 95 | 18.8 | 5.9 | 3 | p.Q70X | p.W402X |
211 | H | 2.4 | 0 | 78 | 11.4 | 2∙5 | 3 | p.G208D | p.G208D |
213 | H-S | 3.7 | 12 | 143 | 38.5 | 15.7 | 3 | p.R383H | p.W402X |
214 | H | 1.8 | 0 | 85 | 13.0 | 2.0 | 3 | p.W402Term | p.W402Term |
215 | H | 3.6 | 5.6 | 137 | 39.6 | 12.1 | 6 | p.P533R | p.G208D |
216 | H | 0.7 | 5.6 | 118 | 26.4 | 7.8 | 6 | p.G208D | p.P533R |