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研究者报告 1例新生儿期开始出现丙酸酸血症 (PA)的患儿经活体—亲属肝移植 (L RL T)治愈。病例 :日本女孩 ,在新生儿期发生了严重的代谢危象。PA的诊断通过尿液有机酸分析 ,皮肤成纤维细胞的丙酸 1—COA羧化酶活性测定和 PC— CB基因的排列顺序 (A148P/T42 81)而确定。给予限?
The researchers reported that one infantile infantile with propionic acidosis (PA) was cured by living-relative liver transplantation (L RL T). Case: Japanese girls, in the neonatal period of a serious metabolic crisis. The diagnosis of PA was confirmed by urine organic acid analysis, determination of propionic acid 1-COA carboxylase activity of skin fibroblasts and arrangement order of PC-CB genes (A148P / T42 81). Give limit?