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. Author manuscript; available in PMC: 2019 Feb 1.
Published in final edited form as: Mol Genet Metab. 2017 Oct 23;123(2):135–139. doi: 10.1016/j.ymgme.2017.10.011

Table 2.

GBA activity distribution, mean and standard deviation in μmol/L/h as measured by the MS/MS and fluorescence assays. LODMS/MS = 0.5 (μmol/L/h).

Full Cohort n=528 GBA Activity (μmol/L/h)
MS/MS Assay Fluorescence Assay
Range Mean (SD) Range Mean (SD)
Control n=510 Normal n=432 5.07 – 27.63 12.11 (3.27) 1.55 – 9.20 3.90 (1.07)
Carrier n=78 3.32 – 16.37 7.93 (2.65) 0.74 – 5.04 2.71 (0.85)
Disease n=18 Gaucher n=18 < LOD – 1.25 0.40 (0.30) 0.42 – 1.66 0.88 (0.35)