A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities()

We report the case of a medically complex African American adult female with ornithine transcarbamylase (OTC) deficiency diagnosed after lifelong protein aversion and new onset of chronic vomiting and abdominal pain with intermittent lethargy and confusion. Symptomatology was crucial to diagnosis as...

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Detalles Bibliográficos
Autores principales: Abbott, Jessica, Senzatimore, Mia, Atwal, Paldeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817481/
https://www.ncbi.nlm.nih.gov/pubmed/36620385
http://dx.doi.org/10.1016/j.ymgmr.2022.100916

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817481/
https://www.ncbi.nlm.nih.gov/pubmed/36620385
http://dx.doi.org/10.1016/j.ymgmr.2022.100916

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