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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
BACKGROUND: Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2012
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3292949/ https://ncbi.nlm.nih.gov/pubmed/22277694 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-9 |
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