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Table 2 Laboratory FD parameters

From: Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

Patient # Normal GLA activity [FI] GLA mRNA expression [FI] Lyso-Gb3 [ng/ml]
1* 2.67 0.88 0.68
2 3.09 0.87 1.08
3 0.91+ 0.57 0.46
4 1.76 0.52 0.63
5 2.12 0.69 0.20
6 2.00 NA 0.90
7 2.20 1.20 0.50
8 1.60 0.76 0.50
9 2.64 1.00 0.50
10 1.92 0.63 0.30
11 0.94+ 0.85 0.60
12 0.61+ 0.48 0.90
13 0.88+ NA 0.60
14 1.48 0.57 1.12
15 2.84 0.66 0.40
  1. Reference values: GLA activity in leukocytes >33 nmol MU/h/mg protein; GLA activity in dried blood spots >2.5 μmol/l/h. Lyso-Gb3 plasma <2.2 ng/ml; NA: not available; FI: fold induction; FD: Fabry disease. *: index patient; +: reduced GLA activity.