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Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect
In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy. While metabolic disorders will...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8169478/ https://ncbi.nlm.nih.gov/pubmed/34059532 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-238023 |
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