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Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree co...
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| Publicado no: | Cureus |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7108672/ https://ncbi.nlm.nih.gov/pubmed/32257695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.7150 |
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