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一例有精氨基琥珀酸尿风险的孕妇,在孕12周同时取绒膜绒毛和羊水。精氨基琥珀酸裂解酶(ASL)活性通过来自~(14)C-瓜氨酸的~(14)C 与绒膜绒毛蛋白结合法测定。其结合总数为对照水平的7％。同时采用氨基酸分析仪分析羊水,精氨基琥珀酸水平是44μmol/l(对照组未测出)。胎儿明显受到影响,14周终止妊娠;胎肝中 ASL 活性为正常胎儿的10％。此外,作者报道早期羊水检查用于1例分娩前丙酸血症的诊断。在妊娠11周取绒毛和羊水。经直
An example of pregnant women with the risk of urinary amilosuccinate, while taking 12 weeks pregnant chorionic villus and amniotic fluid. The activity of arginosuccinate lyase (ASL) was determined by the binding of ~ (14) C from ~ (14) C-citrulline to chorionic villus villi. The total number of combinations was 7% of the control level. At the same time amniotic fluid analysis by amino acid analyzer, argininosuccinate level was 44μmol / l (control group not detected). The fetus was significantly affected, ending the pregnancy at 14 weeks; ASL activity in fetal liver was 10% of that of normal fetuses. In addition, the authors report that early amniotic fluid examination was used in the diagnosis of pre-labor propionatemia. 11 weeks of pregnancy to take fluffy hair and amniotic fluid. Straight