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

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 with a UCD w...

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Detalles Bibliográficos
Autores principales: Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159862/
https://www.ncbi.nlm.nih.gov/pubmed/37151362
http://dx.doi.org/10.1002/jmd2.12361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159862/
https://www.ncbi.nlm.nih.gov/pubmed/37151362
http://dx.doi.org/10.1002/jmd2.12361

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