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TP activities in leucocytes and metabolite concentrations in body fluids of the proband and family members
| Subject | TP activity (nmol/mg protein per hour) | Thymidine in plasma (µmol/l) | Deoxyuridine in plasma (µmol/l) | Thymidine in urine (µmol/mmol creatinine) | Deoxyuridine in urine (µmol/mmol creatinine) |
|---|---|---|---|---|---|
| Proband | 10 | 10 | 20 | 29 | 51 |
| Father | 200 | n.d. | n.d. | ||
| Mother | 320 | n.d. | n.d. | ||
| Sister | 300 | n.d. | n.d. | ||
| Brother | 260 | n.d. | n.d. | ||
| Reference | 360–830 | <0.1 | <0.1 | <5 | <1 |
n.d., not detectable
