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...

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Detalles Bibliográficos
Autores principales: Mani Urmila, Niranjani, Kewalramani, Deepti, Balakrishnan, Umamaheshwari, Manokaran, Ranjith Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
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

Internet

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

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