| 5 | 典型瓜氨酸血症婴儿合并肝硬变1例显示文摘Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients. Conclusion: Classical citrullinaemia is a phenotypically heterogeneous disease, and observations for signs of its presence should be made even in heterozygotes. | EzgüF.S. Tümer L. Dalgi B. 朱新菊 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，2，6： | 0 |
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