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

Abstract 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 rare...

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Hlavní autoři:	Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2018-09-01
Edice:	Journal of Medical Case Reports
Témata:	Ammonia HHH Hyperammonemia Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome UCD Unconsciousness
On-line přístup:	http://link.springer.com/article/10.1186/s13256-018-1794-9
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