Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabolic crises with the first invariably being the most severe....

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Detalles Bibliográficos
Autores principales: Stockdale, Christopher, Bowron, Ann, Appleton, Marie, Richardson, Ruth, Anderson, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626664/
https://www.ncbi.nlm.nih.gov/pubmed/36341166
http://dx.doi.org/10.1002/jmd2.12322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626664/
https://www.ncbi.nlm.nih.gov/pubmed/36341166
http://dx.doi.org/10.1002/jmd2.12322

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