卡格卢米酸作为治疗卡尼丁-基卡尼丁转位酶缺乏症持续性超血的治疗方法:一个案例研究

Hanım Babazade1, Tanyel Zubarioglu1, Esma Uygur1

  • 1İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkey.

概括

卡尼丁-基卡尼丁转位酶缺乏症 (CACTD) 可以导致严重的超血. 卡格卢米酸有效地控制了CACTD婴儿的持续高氨水平,提供了一个新的治疗策略.

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