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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....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| 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 |