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
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Aspatwar A et al.
The Journal of Physiology, 2023
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
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Diez-Fernandez C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
ERRATUM: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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