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Neonatal isovaleric acidemia in China: A case report and review of literature
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). Its morbidity is low, but mortality is high. There is no effective cure for this disease. Early identification of IVA using clinical fe...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812894/ https://www.ncbi.nlm.nih.gov/pubmed/33521113 http://dx.doi.org/10.12998/wjcc.v9.i2.436 |