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- W2319323161 abstract "Background: Glutaric aciduria type I (GA-I) is an autosomal recessive inherited metabolic disease due to a deficiency of glutaryl-CoA dehydrogenase, which if untreated results in severe neurological impairment. Combined metabolic treatment (low-lysine diet, carnitine supplementation, and emergency treatment) according to evidence-based guideline recommendations (Kölker et al 2011) has significantly reduced the manifestation of striatal injury and secondary dystonia in glutaric acidemia type I (GA-I) patients. However, development of cognitive functions in these patients has not yet been studied in detail." @default.
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- W2319323161 date "2014-09-11" @default.
- W2319323161 modified "2023-09-25" @default.
- W2319323161 title "Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I" @default.
- W2319323161 doi "https://doi.org/10.1055/s-0034-1390537" @default.
- W2319323161 hasPublicationYear "2014" @default.
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