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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |