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Table 1 Patients with definitive diagnosis of Fabry Disease. Age at diagnosis is indicated. M: hemizygous men F: heterozygous females. Activity of ɑ-Gal A is expressed in μmol/Lh. 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 Mutation Reference
1 52 M Nephrology 1, 2,13 0.59 ± 0.14 c.613C > T; p.Pro205Ser [35]
2 30 M FS 0.76 ± 0.43
3 46 F FS 2.97 ± 0.16
4 25 M FS 1.27 ± 0.06
5 56 F FS 3.33 ± 0.33
6 47 F FS 4.36 ± 1.58
7 76 F FS 1.83 ± 0.24
8 55 F FS 2.24 ± 0.02
9 24 F FS 1.82 ± 0.38
10 22 F FS 0.58 ± 0.37
11 29 M FS 1.04 ± 0.07
12 62 F FS 4.40 ± 0.03
13 44 F FS 3.67 ± 1.45
14 60 M FS 0.28 ± 0.11
15 82 F FS 6.41 ± 0.01
16 21 M FS 1.04 ± 0.61
17 34 M FS 0.48 ± 0.28
18 0.5 F FS 3.7 ± 1.73
19 8 M Genetics FS 0.92 ± 0.1 c.713G > A; p.Ser238Asn [4]
20 12 M FS 1.2 ± 1.81
21 57 M FS 1.12 ± 0.12
22 X F FS 3.76 ± 0.36
23 52 F FS 2.47 ± 0.22
24 31 F FS 2.54 ± 0.05
25 39 F Pediatrics FS 4.98
26 2 F FS 1.30
27 4 M FS 0.69
28 74 M Cardiology 2, FS 0.58 ± 0.38
29 49 F 2,3 1.01 ± 0.34
30 52 M 2, FS 0.56 ± 0.25
31 15 F FS 4.68 ± 0.30
32 X F FS 4.61 ± 0.42
33 10 F Nephrology FS 4.75 ± 0.11
34 39 M FS 1.35 ± 0.01
35 70 M FS 1.48 ± 0.56
36 64 M FS 1.89 ± 0.65
37 21 M FS 1.45 ± 0.7
38 17 F FS NM
39 X M FS 1.67 ± 0.12
40 38 M FS 1.20 ± 0.10
41 56 F FS 2.4 ± 0.07
42 62 F FS 4.9 ± 1.16
43 30 M Internal Medicine 2,4,6,10 1.27 ± 0.10 c.836A > G; p.Gln279Arg [36]
44 28 M 2,10 0.92 ± 0.2
45 51 F 2,4,6,10 4.02 ± 0.01
46 26 M FS 1.5 ± 0.74
47 53 M 2 1.98 ± 0.44
48 48 F FS 3.13 ± 0.32
49 48 F 2 7.45 ± 0.36
50 23 F FS 7.13 ± 0.56
51 22 M Internal Medicine 3,4,5,6,7,8,9,10 0.75 ± 0.05 c.422C > T; p.Thr141Ile [37]
52 55 F 2,4,5 1.01 ± 0.01
53 53 M 3,4,5,9,10 2.25 ± 0.06
54 48 M Cardiology 2 1.05 ± 0.54 c.679C > T; p.Arg227* [38]
55 48 M 1,2 0.86 ± 0.19
56 46 M Cardiology 2 1.19 ± 0.05 c.242G > C; p.Trp81Ser [36]
57 13 F Internal Medicine 3 1.48 ± 0.3 c.242G > C; p.Trp81Ser [36]
58 12 F Nephrology FS 3.16 ± 0.2 c.1232G > A; p.Gly411Asp [39]
59 65 F FS 5.95 ± 1.25
60 27 M Nephrology 1,6,10 0.94 ± 0.3 c.778G > A; p.Gly260Arg Not described
61 59 F 12 3.58 ± 0.59
62 53 M Neurology 1,5 0.13 ± 0.01 c.374A > T; p.His125Leu Not described (possible new mutation that need to be confirmed)
63 77 F FS 1.04 ± 0.42
64 X M Genetics FS 1.9 ± 0.84 c.463G > C; p.Asp155His [40]
65 X F FS NM
66 42 M Cardiology FS 1.87 ± 0.53 p.Arg227Gln [41]
67 X M FS 1.96 ± 0.47
68 35 F Internal Medicine 1,3,4,9 5.88 ± 0.37 c.431delG; p.Gly144Alafs*21 Not described
69 48 M Genetics 1,10,13 0.84 ± 0.18 c.1182delA; p.Phe396Serfs*8 Not described
70 37 M Nephrology 1 0.63 ± 0.03 c.509A > T; p.Asp170Val [42]
71 23 F Internal Medicine 3,8,11 1.02 ± 0.13 c.1277_1278delAA; p.Lys426Argfs*11 [43]
72 19 F Internal Medicine FS 2.43 ± 0.58 c.132G > T; p.Trp44Cys [44]
73 X M Internal Medicine 2,3,4,8,9,10 1.21 ± 0.54 c.932 T > C; p.Leu311Pro Not described
74 35 F Nephrology 3,6,10,11 1.35 ± 0.01 c.155G > C; p.Cys52Ser [45]
75 46 M Internal Medicine 2,4,8 0.85 ± 0.34 c.572 T > C; p.Leu191Pro [46]
76 71 F Genetics 1,10 NM c.337 T > C; p.Phe113Leu [42]
77 43 F Nephrology FS 8.37 ± 0.84 c.298A > T; p.Arg100* [47]
78 55 F Cardiology 9,4 7.61 ± 0.63 c.53 T > G; p.Phe18Cys [48]
79 27 M Clinical Pathology 1, 12 1.98 ± 0.25 c.125 T > A; p.Met42Lys Not described