CITRULLINEMIA相关论文
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目的 总结1例成人Ⅱ型瓜氨酸血症( CTLN2)的临床资料,提高临床医生对该病早期诊断、早期治疗和随访重要性的认识.方法 收集患者临......
AIM:To determine the prevalence of SLC25A13 mutations in the Thai population.METHODS:A total of 1537 subjects representi......
Metabolically based liver damage pathophysiology in patients with urea cycle disorders-A new hypothe
The underlying pathophysiology of liver dysfunction in urea cycle disorders(UCDs) is still largely elusive. There is som......
目的探讨癫癇患者血清瓜氨酸水平升高的临床意义,为临床提高抗癫癇药物疗效提供参考思路。方法采用液相色谱-串联质谱法筛查无脑结......
瓜氨酸血症（Citrulinemia）是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。精氨酸琥珀酸合成酶基因外显子5发生突变（C-T......
