Table 1 Characterization of adults' patients with Gaucher disease type 1 in our unit and in the study cohort

Number

–

192

68

124

Age, years^a

Untreated 45 (22–83)

Treated 49 (19–91)

48 (20–91)

47 (20–76)

49.5 (22–91)

NS

Female

Untreated 61%

Treated 54%

111 (57.8%)

43 (62.3%)

68 (54.8%)

NS

Severity score index^a

Untreated 2 (0–13)

Treated 7 (1–25)

5 (0–25)

2 (0–13)

7 (2–25)

 < 0.0001

Homozygosity to the c.1226A>G (N370S) mutation

Untreated 80%

Treated 62%

133 (69.3%)

57 (83.8%)

75 (60.5%)

0.001