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Table 2 Subjects with late onset variants in GLA or p.Asp313Tyr polymorphism, Activity of ɑ-Gal A is expressed in μmol/Lh ± Standard deviation. Age at diagnosis is indicated. M: hemizygous men F: heterozygous females. FS: family study; X: not indicated, NM. Not measured; Symptoms 1: Renal Failure 2: Ventricular Hypertrophy; 3: Acroparesthesia, 4: Angiokeratome; 5: Cardiomegaly; 6: Fabry Facies; 7: Hernia; 8: Hypohidrosis; 9: Intolerance to heat or cold; 10: Neuropathic pain; 11: Corneal clouding; 12: Stroke in the young, 13: Hypertrophic, myocardiopathy

From: Fabry disease in the Spanish population: observational study with detection of 77 patients

Code# Age Sex Medical Department Symptoms ɑ-Gal A Activity Variant
80 42 F Neurology FS 3.6 ± 1.76 c.352C > T;p.Arg118Cys
81 51 F FS 2.33 ± 0.43
82 28 F FS 5.83 ± 0.13
83 31 F FS 6.64 ± 0.13
84 X M Genetics 6,13 4.21 ± 2.02 c.427G > A; p.Ala143Thr
85 45 F FS NM
86 X F 2,13 NM
87 17 F Neurology FS 3.05 ± 0.17
88 75 M Cardiology FS 3.77 ± 0.22 c.937G > T; p.Asp313Tyr
89 57 F Nephrology FS 4.28 ± 0.79
90 X M Genetics FS 5.2 ± 0.87
91 35 M Neurology FS 3.8 ± 1.57
92 1 F Nephrology 1 8.69 ± 1.93
93 48 M Neurology 3,5 5.5 ± 0.41
94 45 F Clinical Pathology 2,5 6.63 ± 0.56