Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction

2026 Open access

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Authors: Diego Cardoso Fragoso, Eiman Al‐Ajmi, Agustín M. Cárdenas, Pilar Quijada‐Fraile, Asthik Biswas, Sniya Valsa Sudhakar, Felice D’Arco, Kshitij Mankad, Khalid Al‐Thihli, Olaf A. Bodamer, Anne O’Donnell‐Luria, Edward Yang
+1 more Lance Rodan
DOI: 10.13140/rg.2.2.14558.70727
Cited by: 0

Fields of Study & Subjects

Enzyme function and inhibition Mitochondrial Function and Pathology Metabolism and Genetic Disorders

Publication details

Publication date
1 January 2026
Language
EN