Associated Papers
A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.
Bin Hadyan MF et al.
Molecular Genetics and Metabolism Reports, 2026
A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
Mathew RP et al.
American Journal of Medical Genetics. Part A, 2024
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Al-Thihli K et al.
Jimd Reports, 2024
A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene.
Mani Urmila N et al.
Epilepsy & Behavior Reports, 2022
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