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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...
Zapisane w:
| Wydane w: | Orphanet J Rare Dis |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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