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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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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Beddoes, Penelope, Nerone, Gabriela, Tai, Charlotte
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
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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