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Table 1 Comparisons of different methods used in NPC disease diagnosis

From: Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O

Patients GST-PFO cellular ELISA (arbitrary units) Filipin staining Total cholesterol content (μg/ml) Chitotriosidase activity (nmol/ml/h) Comments
1 0.205 ± 0.031 + + + 115.72 ± 6.06 1515 -1810 Typical symptoms
2 0.192 ± 0.042 + + + ND 465 - 783 Typical symptoms
3 0.181 ± 0.024 + + + 87.21 ± 14.80 212 Typical symptoms
4 0.166 ± 0.036 ++ 53.86 ± 5.41 ND Qualified initially as NPC, not confirmed genetically
5 0.130 ± 0.018 + 58.08 ± 11.91 286 - 323 Moderate symptoms - progressing with age, genetically confirmed
Healthy 0.085 ± 0.004 14.63 ± 1.12 120 - 150 N/A
  1. GST-PFO binding, filipin labeling, and total cholesterol content was estimated in cultured skin fibroblasts, while the chitotriosidase activity in serum of NPC patients and a healthy control. Results of two or three assays run in triplicates are shown as mean ± SEM when indicated.