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Table 1 Demographic and clinical data of all investigated FD patients

From: Retinal hyperreflective foci in Fabry disease

Patient

Age [years]

Sex

Mutation

Lyso-Gb3 [ng/ml]

ERT1

1

32

f

p.N320I

4.2

noa

2

56.9

f

c.718_719delAA

10.0

agalsidase alfa for 123 mo

3

26.7

m

c.718_719delAA

26.6

agalsidase beta for 14 mob

4

27.8

m

p.R227X

19.7

agalsidase alfa for 96 mo

5

23.1

m

p.N215S

2.8

no

6

52.9

f

p.N215S

1.6

no

7

11.9

m

p.D313Y

0.5

no

8

42

f

p.D313Y

0.5

agalsidase alfa for 23 mo

9

40

m

p.Q327L

24.0

agalsidase alfa for 92 mo

10

34

m

c.717_718delAA

85.8

agalsidase alfa for 80 mo

11

57.2

f

c.717_718delAA

n.a.

agalsidase alfa for 72 mo

12

58.6

m

p.E341K

33.9

agalsidase beta for 28 mo

13

26.5

f

p.D313Y

0.6

agalsidase alfa for 30 mo

14

50.7

f

p.D313Y

3.9

agalsidase alfa for 32 mo

15

30.6

f

p.D313Y

0.6

no

16

65.3

m

p.N215S

5.5

agalsidase beta for 12 mo

17

48.7

f

c.718_719delAA

6.3

agalsidase alfa for 25 mo

18

56.4

m

p.I384N

20.6

agalsidase alfa for 120 mo

19

39.3

f

p.D313Y

0.7

agalsidase alfa for 7 mo

20

11.2

m

p.D313Y

0.7

no

21

53

f

c.1277_1278delAA

11.8

agalsidase alfa for 47 mo

22

51.6

m

p.P205T

28.9

agalsidase alfa for 28 mo

23

55.1

m

p.A143T

0.6

no

24

59.9

f

p.Q327L

6.9

agalsidase alfa for 124 mo

25

37.6

m

p.R227Q

36.4

agalsidase alfa for 118 mo

26

33

f

p.E341K

1.6

no

27

44.8

m

p.L89del

107.0

no

  1. at time of ocular examination
  2. f female, m male, ERT Enzyme replacement therapy, mo months, n.a. not available
  3. a(agalsidase alfa for 19 mo until 4 mo before ocular exam)
  4. b(switched from agalsidase alfa)