Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been...

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Detalles Bibliográficos
Publicado en:J Med Case Rep
Autores principales: Silfverberg, Thomas, Sahlander, Fredrik, Enlund, Magnus, Oscarson, Mikael, Hårdstedt, Maria
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151189/
https://ncbi.nlm.nih.gov/pubmed/30243302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-018-1794-9
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