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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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Principais autores: RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2023-05-01
Serier:JIMD Reports
Fag:
CPS1
hypothermia
intellectual disability
ornithine transcarbamylase deficiency
OTC
severe SARS‐CoV‐2 infection
Online adgang:https://doi.org/10.1002/jmd2.12361
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