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Table 3 Patient demographics and diagnostic features among all study patients

From: Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

  NP-C positive (two NPC1 mutations) (n = 10) NP-C uncertain (one NPC1 mutation) (n = 8) NP-C negative (n = 218)
Age (years)
Mean ± SD 28 ± 21 28 ± 28 44 ± 22
Median (range) 35 (1.4–62) 21 (0.8–68) 46 (0.03–83)
Gender (n)
Male 4 6 126
Female 6 2 92
NP-C SI (points)
Mean ± SD 129 ± 72.1 78.2 ± 27.1 58.9 ± 39.2
Median (range) 145 (20–200) 69.1 (55–120) 55 (5–245)
ChT activity (nmol/mL/h)
Mean ± SD 553 ± 479 187 ± 262 122 ± 423
Median (range) 255 (75–1477) 109 (24–771) 53 (11–5149)
CCL18 conc. (ng/mL)
Mean ± SD 481 ± 370 242 ± 179 95 ± 178
Median (range) 266 (88–1137) 198 (39–550) (11–1513)
7-KC (ng/mL)
Mean ± SD 351 ± 222 103 ± 91.20 ND
Median (range) 249 (103–761) 198 (<2–761)
Filipin staining (n)
Classical 3 2 ND
Variant 1 6
No data 6 0
  1. All patients, including those from both Periods 1 and 2. Data expressed as mean ± SD, median and range (minimum–maximum). Normal biomarker values calculated in 36 patients without lysosomal disorders were: 46.1 ± 30.2 nmol/mL/h for ChT activity; 52.5 ± 30.3 ng/mL for CCL18/PARC concentration; and 15.99 ± 14.67 ng/mL for 7-KC concentration. ND no data available