Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychol...

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Veröffentlicht in:Journal of inherited metabolic disease 2018-07, Vol.41 (4), p.657-667
Hauptverfasser: Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen
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Sprache:eng
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