Table 1 |
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|
Clinical and biochemical characteristics of the pedigree |
||||
| Biochemical parameter |
Proband (II-2) |
Mother (I-1) |
Sister (II-1) |
Sister (II-3) |
|
|
||||
| Total cholesterol (mmol/L) |
7.40 |
7.70 |
5.78 |
6.79 |
| Triglyceride (mmol/L) |
20.6 |
2.61 |
3.80 |
1.78 |
| VLDL- C (mmol/L) |
4.62 |
0.92 |
1.09 |
0.58 |
| VLDL-TG (mmol/L) |
15.4 |
1.57 |
2.54 |
1.10 |
| VLDL-TG/VLDL-C ratio |
3.33 |
1.71 |
2.33 |
1.90 |
| HDL-C (mmol/L) |
0.56 |
0.94 |
1.04 |
1.72 |
| LDL-C (mmol/L) |
0.83 |
5.32 |
3.29 |
4.19 |
| Apo A-1 (g/L) |
1.25 |
1.20 |
1.45 |
1.59 |
| Apo B (g/L) |
0.91 |
1.59 |
1.16 |
1.22 |
|
Abbreviations: VLDL-C, very low density lipoprotein – cholesterol; VLDL-TG, very low density lipoprotein- triglyceride; HDL-C, high density lipoprotein – cholesterol; LDL-C, low density lipoprotein – cholesterol | ||||
Joy et al. Orphanet Journal of Rare Diseases 2007 2:49 doi:10.1186/1750-1172-2-49 |
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