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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...

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Detalles Bibliográficos
Autores principales: Wu, Fang, Fan, Shu-Juan, Zhou, Xi-Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
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

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