Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.
Shaymaa Shurrab, Amira Mobarak et al.
Long-term follow-up of two siblings with mitochondrial carbonic anhydrase VA deficiency suggests favorable growth, development, and neurological outcomes are achievable with individualized management, despite significant clinical heterogeneity observed in a literature review of 69 cases.