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
Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.
Schmiesing J et al.
Cell Reports, 2018
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
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD et al.
American Journal of Human Genetics, 2014
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