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Table 2 Clinical, demographic, laboratory and genetic characteristics of PMM2-CDG patients

From: GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Patient Country Age (years) Sex PMM2 mutations *Transferrin **AT Clinical severity
Asialo Disialo   
P1 Spain 1 M Y64C, R141H 11.0 45.8 46 Severe
P2 Spain 14 M R141H, E93A 10.0 32.8 35 Moderate
P3 Spain 6 F P113L, T118S+P184D 23.6 44.1 22 Severe
P4 Spain 1 M E33X,V44A 21.5 38.2 17 Severe
P5 Spain 4 F P113L haploinsuficiency 13.5 33.9 53 Severe
P6 Belgium 13 M F119L, R141H 6.0 30.1 43 Moderate
P7 Belgium 1 M P113L, T237R 27.6 40.5 17 Moderate
P8 Belgium 8 M D188G, V231M 9.4 36.1 42 Moderate
P9 Belgium 35 F P113L, R141H 12.7 35.7 28 Mild
P10 Belgium 35 F P113L, R141H 8.7 32.6 34 Mild
P11 Portugal 18 M R141H, C241S 8.0 25.0 48 Mild
P12 Denmark 12 M F119L homozygous 11.9 39.1 28 Moderate
Control Pool - - - - 1.3 0.8 100 -
  1. *Area of asialo- and disialo- transferrin HPLC peaks (% of total transferrin).
  2. **AT: anti-FXa activity of antithrombin as % of the value observed in a pool of 100 healthy blood donors.