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Propionic Acidemia and Optic Neuropathy: A Report of Two Cases
Introduction: Propionic acidemia is a metabolic disease produced by a deficiency of the enzyme propionyl-CoA carboxylase. It can lead to coma, with severe neurologic encephalopathy or present later in life with vomiting, hypotonia, and seizures. An early diagnosis with adequate treatment helps to pr...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3897799/ https://ncbi.nlm.nih.gov/pubmed/23818179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_234 |
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