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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Aspatwar A et al.
The Journal of Physiology, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.
Marwaha A et al.
Jimd Reports, 2021
Molecular heterogeneity and early metastatic clone selection in testicular germ cell cancer development.
Dorssers LCJ et al.
British Journal of Cancer, 2019
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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