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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
BACKGROUND: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail. METHODS: Thirty patients detected by newborn screening (n = 13), high...
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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4689061/ https://ncbi.nlm.nih.gov/pubmed/26693825 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0379-6 |
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