Table 1.
Baseline characteristics of patients at study entry before enzyme replacement therapy
| Genotype | Age | Gender | Walton score | Assisted ventilation | |
|---|---|---|---|---|---|
| Patient 1 | c.1082C>T (p.Pro361Leu) c.1309C>T (p.Arg437Cys) |
25 | M | 7 | Full day NIV |
| Patient 2 | c.1082C>T (p.Pro361Leu) c.1309C>T (p.Arg437Cys) |
21 | M | 2 | Nil |
| Patient 3 | c.2238G>C (p.Trp746Cys) c.1935C>A (p.Asp645Glu) |
39 | F | 2 | Nocturnal NIV |
| Patient 4 | c.2238G>C (p.Trp746Cys) c.1935C>A (p.Asp645Glu) |
37 | F | 2.5 | Nocturnal NIV |
Patients 1 and 2 were brothers, patients 3 and 4 were sisters