The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59‐year‐old woman wit...

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Autori principali:	RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2023-05-01
Serie:	JIMD Reports
Soggetti:	CPS1 hypothermia intellectual disability ornithine transcarbamylase deficiency OTC severe SARS‐CoV‐2 infection
Accesso online:	https://doi.org/10.1002/jmd2.12361
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