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Table 1 Characteristics of investigated populations

From: A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Cohort

Individuals ( n )

Measurements ( n )

Age (first value)

Males ( n )

Females ( n )

(median, IQR, number of cases)

Age (median, IQR)

Age (median, IQR)

NPC1 patients

110

241

13 (4-20)

33

33

(n = 67)

13 (4-19)

12 (5-23)

NPC1 carriers

63

94

46 (25-54)

8

12

(n = 20)

48 (27-56)

45 (14-53)

NP-A/B patients

21

21

9 (1-15)

10

4

(n = 14)

7 (1-15)

11 (3-47)

NP-A/B carriers

5

5

7 (min-max: 2-35)

1

2

(n = 3)

7 yrs

Med.: 19

Healthy controls

43

47

41 (20-50)

3

9

(n = 12)

51 (min-max: 4-71))

38 (21-46)

  1. Individual level data on age and gender was not documented for all samples. Age and gender are stated only where available.