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Updated: Jan 16, 2026

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神经成像发现碳酸无水素VA缺乏症:一系列病例突出诊断和预后模式在潜在可逆的线粒体功能障碍

Diego Cardoso Fragoso1, Eiman Al-Ajmi2, Agustin M Cardenas3

  • 1From the Boston Children's Hospital (D.C.F., O.B., A.O.-L., E.Y., L.R., C.A.P.F.A.) Boston, Massachusetts diego.cardosofragoso@childrens.harvard.edu.

AJNR. American journal of neuroradiology
|September 29, 2025
PubMed
概括

碳酸无水酶VA (CA-VA) 缺乏症的神经图像显示出尿素循环障碍的模式. 磁力共振成像的发现可以预测患者的结果,并指导这种罕见的代谢障碍的治疗.

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