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Table 1 Patients’ clinical data and laboratory results

From: Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Age and Sex (Case)

CM

AOS

(Years)

Age of Diagnosis

(Years)

Follow-up Time

(Years)

Weight-Size (kg/m)

Cholestanol

(µg/mL)

Cholesterol (mg/dl)

Vitamin-D (ng/mL)

Ca/P

(mg/dl)

EMG

(Peripheral Neuropathy)

DEXA

(Total Hip Region)

33 F (1)

 

5

Diarrhea

27

6

42/160

35.27

186

35.94

9.5/3.7

+

BMD:0.536 T (-3.3)

Z (-3.3)

28 M (2)

+

11

Low Intelligence

23

5

65/170

11.82

230

13.44

10.2/2.8

 

BMD:0.996 T (-0.2)

Z (-0.2)

41 M (3)

+

13

Low Intelligence

39

2

80/175

7.58

211

17.6

9.5/2

 

BMD:1.089 T (0.4)

Z (0.6)

30 F (4)

+

15

Low Intelligence

25

5

59/172

5.77

196

37.56

10.1/3.8

 

BMD:0.814 T (-1.1)

Z (-1)

44 M (5)

+

9

Low Intelligence

41

3

55/169

18.87

235

39.61

9.6/2

 

BMD:0.746 T (-1.6)

Z (-1.3)

39 M (6)

 

3

Diarrhea

34

5

52/164

29.41

186

22.45

9.2/3.3

+

BMD:0.631 T (-1.7)

Z (-1.6)

45 M (7)

 

4

Diarrhea

40

5

45/165

11.01

142

20.67

8.5/2.4

+

BMD:0.780 T (-1.4)

Z (-1.5)

42 F (8)

+

14

Low Intelligence

41

1

75/161

15.14

174

16.01

9.2/3.4

 

BMD:0.885 T (-0.5)

Z (-0.3)

  1. F Female; M Male; CM consanguineous marriages; AOS Age of onset and symptom; BMD Bone mineral density