Case | Sex | Consan-guinity | Genetic analysis | Age at diagnosis, years | Age at initiation of ERT, years | Duration of follow-upa for clinical outcomes, years | Duration of follow-upa for event-based outcomes, years | Heightb, cm | Weightb, kg | uGAGb, µg/mg creatinine | uGAG age-related reference range, µg/mg creatinine (males + females) [38] | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
c.DNA | Protein | |||||||||||
1 | M | Yes | NA | NA | 2.8 | 2.8 | 2.8 | 3.0 | 90 | 12.0 | 123.5 | 8–90 |
2 | M | Yes | c.962T>C homozygous | p.Leu321 Pro | 3.8 | 3.8 | 2.4 | 9.0 | 87 | 14.5 | 112.8 | 8–90 |
3 | F | No | NA | NA | 4.3 | 4.3 | 2.4 | 2.5 | 109 | 15.4 | 65.2 | 8–90 |
4 | F | No | NA | NA | 4.7 | 4.7 | 2.2 | 4.0 | 106 | 17.0 | 132.8 | 8–90 |
5 | F | No | NA | NA | 4.8 | 4.8 | 1.9 | 2.5 | 107 | 21.0 | 81.6 | 8–90 |
6 | F | Yes | NA | NA | 4.8 | 4.8 | 2.3 | 4.0 | 90 | 13.0 | 154.3 | 8–90 |
7 | M | Yes | c.962T>C homozygous | p.Leu321 Pro | 5.0 | 5.8 | 2.3 | 8.5 | 103 | 15.8 | 124.4 | 8–90 |
8 | M | Yes | c.478 C>T homozygous | p.Arg160 Ter | 6.0 | 6.8 | 2.4 | 10.0 | 112 | 20.0 | 24.3 | 8–90 |
9 | F | Yes | c.962T>C homozygous | p.Leu321 Pro | 7.2 | 7.8 | 2.4 | 9.0 | 99 | 15.3 | 307.7 | 8–90 |
10 | F | Yes | c.962T>C homozygous | p.Leu321 Pro | 6.5 | 7.8 | 2.5 | 5.5 | 96 | 16.0 | 128.8 | 8–90 |
11 | M | Yes | NA | NA | 7.0 | 8.5 | 3.2 | 3.5 | 116 | 25.0 | 201.1 | 8–90 |
12 | M | Yes | NA | NA | 11.0 | 13.8 | 2.3 | 5.0 | 149 | 50.0 | 28.3 | 5–48 |
13 | F | Yes | NA | NA | 10.0 | 13.8 | 2.4 | 3.5 | 145 | 40.0 | 63.2 | 5–48 |
14 | M | No | NA | NA | 13.0 | 15.8 | 2.3 | 2.5 | 147 | 49.0 | 32.3 | 5–48 |