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

From: Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

  SZMC unitb Study cohort
Total Untreated Treated p value*
Number 192 68 124  
Age, yearsa 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 indexa 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
  1. *Comparing treated and untreated patients in study cohort
  2. aMedian(range)
  3. bData were extracted from the SZMC database