Cargando…
A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene
Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis in neonates with hyperammonemia not attributed to defects in urea cycle enzymes, organic acid disorders, hypoglycemia, and prim...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674490/ https://www.ncbi.nlm.nih.gov/pubmed/36411877 http://dx.doi.org/10.1016/j.ebr.2022.100573 |