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Table 4 Biochemical analysis of plasma from CMD patients

From: Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

Case

Ank mutation

Age

Gender

PTH (pg/ml)

25OHD (ng/ml)

i-FGF23 (pg/ml)

c-FGF23 (RU/ml)

1

F377del

45

F

63.14

32.90

13.42

61.85

2

F377del

17

F

37.38

40.92

19.84

59.02

3

F377del

14

F

31.41

34.26

14.64

50.83

4

F377del

9

F

28.78

29.68

13.71

14.25

5

S375del

10

F

35.57

13.4

33.16

31.95

6

S375del

48

F

26.75

18.56

13.51

30.66

7

C331 → R

18

M

16.53

23.82

10.02

63.25

  1. i-FGF23: intact FGF23; c-FGF23: C-terminal form of FGF23; Normal range of human hormones: 1) human PTH: 12–65 pg/ml; 2) human i-FGF23: 10–50 pg/ml; 3) human c-FGF23: <120-150 RU/ml. 4) human vitamin D insufficiency: 21–29 ng/ml; vitamin D deficiency < 20 ng/ml. Bold number indicated cases with vitamin D insufficiency or deficiency