Table 1 Genotype and alpha-N-acetyl-D-glucosaminidase activity for MPS III patients
n | p.Ser141Ser (c.423 T > C) | p.Arg737Gly (c.2209C > G) | alpha-N-acetyl-D-glucosaminidase activity in leukocytes (reference value: 10–34 nmol/17 h/mg protein) | |
|---|---|---|---|---|
MPS IIIB patients | 12 | C/C | G/G | 0,25 ± 0,17 |
Other MPS III patients | 18 | C/C | G/G | 14,5 ± 3,5 |
2 | C/C | C/G | 19,8 ± 3,2 | |
2 | T/C | C/G | 16,5 ± 1,5 |