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AB101. Neonatal form of Isovaleric acidemia in Vietnamese patients: clinical history and outcomes
BACKGROUND AND OBJECTIVE: Isovaleric academia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD). The clinical presentation of IVA appears to be highly variable ranging from severely affected to asy...
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| 出版年: | Ann Transl Med |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
AME Publishing Company
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563459/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB101 |
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