Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
碳酸酐酶VA缺乏症的神经影像学表现:一系列病例揭示了这种潜在可逆性线粒体功能障碍的诊断和预后模式
期刊:American Journal of Neuroradiology
影响因子:3.7
doi:10.3174/ajnr.A8948
Fragoso, Diego Cardoso; Al-Ajmi, Eiman; Cardenas, Agustin M; Quijada-Fraile, Pilar; Biswas, Asthik; Sudhakar, Sniya; D'Arco, Felice; Mankad, Kshitij; Al-Thihli, Khalid; Bodamer, Olaf; O'Donnell-Luria, Anne; Yang, Edward; Rodan, Lance; Al-Murshedi, Fathiya; Alves, Cesar Augusto P F