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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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan, Burgard, Peter
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Research
Online pristup: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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