[临床特征和55名患有青春期开始的甲基马龙酸血症患者的后续研究]
1Children's Medical Center, Peking University First Hospital, Beijing 102600, China.
概括
青春期开始的甲基马龙酸血症 (MMA) 往往由于神经精神问题等非特异性症状而延迟诊断. 早期的代谢和遗传检测,以及用可巴胺,L-卡尼丁和贝他因治疗,有效地扭转了预后,使患者能够回到学校或工作.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
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