感官神经病变作为多重乙辅酶A脱原酶缺乏症的表现

Jessica N Harding1, Nika Mohannak2, Zoya Georgieva3

  • 1University of Cambridge School of Clinical Medicine, Cambridge, UK jh2215@cam.ac.uk.

BMJ case reports
|March 15, 2024
PubMed
概括

多重乙辅酶甲脱酶缺乏症 (MADD) 是一种罕见的代谢障碍,经常呈现异常. 通过代谢测试和利博弗拉治疗进行早期诊断,可以逆转肌肉病和脱补偿等症状.

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