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
Carbonic anhydrase VA deficiency due to a novel CA5A variant.
Keehan L et al.
Molecular Genetics and Metabolism Reports, 2025
Select a paper to view details