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Table 1 Patient characteristics

From: Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model

  No.* Value
Sex, n (%) 233  
  Female   118 (50.6)
  Male   115 (49.4)
Age, years, median (range) [IQR]   
  Diagnosis 233 14.5 (0.5-67.5) [8.4;34.0]
  Initiation of ERT 233 34.3 (1.0-76.0) [20.6;48.0]
Patients <15 at diagnosis, n (%) 233 87 (62.7)
Patients <15 at initiation of ERT, n (%) 233 41 (17.6)
Type, n (%) 233  
  1   226 (97.0)
  3   7 (3.0)
Genotype, n (%)   194  
  N370S/N370S   26 (13.4)
  N370S/L444P   31 (15.9)
  L444P/L444P   4 (2.1)
  N370S/Other   100 (51.5)
  L444P/Other   10 (5.2)
  Other/Other   23 (11.9)
Initial test leading to GD diagnosis†, n (%)** 153  
  Enzyme assay   34 (22.2)
  GBA-gene sequencing   1 (0.7)
  Bone-marrow aspiration   79 (51.6)
  Bone-marrow biopsy   13 (8.5)
  Bone biopsy   5 (3.3)
  Liver biopsy   3 (1.9)
  Spleen histology   17 (11.1)
  Other   1 (0.7)
Splenectomy at initiation of ERT, n (%) 233 61 (26.2)
Patients with bone events, n (%)   
  At initiation of ERT 233 65 (27.9)
  On ERT 233 33 (14.1)
Initial dose, n (%)   213  
  < 90 IU/kg/month   28 (13.1)
  90- 120 IU/kg/month   174 (81.7)
  > 120 IU/kg/month   11 (5.2)
  1. GBA = glucosidase-β acid. *No. represents the number of patients with available information.
  2. † Several symptoms for each patient. **All patients had diagnosis confirmed by enzymatic assay.