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Table 3 Intracellular levels of tHcy, Cys, Met and MMA in Gaucher disease and healthy human fibroblasts in the absence and in the presence of HOCbl

From: Assessment of cellular cobalamin metabolism in Gaucher disease

Variable

Healthy human fibroblasts

GD fibroblasts

**p-value

Without HOCbl (n=3)

With HOCbl (n = 3)

Without HOCbl (n = 3)*

With HOCbl (n = 3)*

Group

Cobalamin supplementation

Interaction

tHcy (nmol/mg) range

0.21[0.04–0.45] 0.19–0.34

0.17[0.12–0.22] 0.15–0.19

0.26[−0.12–0.77] 0.19–0.53

0.25[0.10–0.40] 0.19–0.31

0.180

0.180

0.154

Cys (nmol/mg) range

34.2[10.21–53.57] 22.24–39.23

36.26[6.80–64.97] 23.99–47.40

31.67[−10.99–87.88] 22.82–60.85

27.93[−22.75–102.04] 22.53–68.48

1.000

0.818

0.954

Met (nmol/mg) range

27.72[15.90–40.19] 23.33–33.09

32.49[20.65–40.67] 26.04–33.45

39.73[22.03–55.31] 31.50–44.77

38.59[23.84–59.61] 36.62–49.96

0.015

0.589

0.103

MMA (nmol/mg) range

0.01[0.01–0.02] 0.01–0.02

0.01[0.01–0.03] 0.01–0.02

0.02[−0.01–0.05] 0.01–0.03

0.02[− 0.02–0.06] 0.01–0.04

0.699

0.818

0.965

  1. Data expressed as Median [95% Confidence Interval], range. n = 3 for each group. Legend: without HOCbl – culture medium without hydroxocobalamin; with HOCbl – culture medium with hydroxocobalamin; GD Gaucher Disease. p – statistical significance. **Mann-Whitney test (factors: group – healthy human and GD patients, cobalamin supplementation) or Kruskal-Wallis test with Dunn post hoc (factors: group – healthy human control and GD; cobalamin supplementation; interaction) for independent samples. Significance set at 5% for all analysis. *GD types I (n = 1); II (n = 1) and III (n = 1). Statistically significant findings are highlighted in bold font