A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference11 articles.
1. Metabolic epilepsy: an update;Papetti;Brain Dev,2013
2. Metabolic etiologies in West syndrome;Salar;Epilepsia Open,2018
3. Screening of inherited metabolic disorders in infants with infantile spasms;Liu;Cell Biochem Biophys,2015
4. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center;Alrifai;Pediatr Neurol,2014
5. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis;Diez-Fernandez;Genet Med,2016
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1. A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion;American Journal of Medical Genetics Part A;2024-07
2. A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency;JIMD Reports;2024-05-08
3. Identification of genetic variants and individual genes associated with postpartum hypocalcemia in Holstein cows;Scientific Reports;2023-12-11
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