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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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Библиографические подробности
Опубликовано в: :J Inherit Metab Dis
Главные авторы: Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6041144/
https://ncbi.nlm.nih.gov/pubmed/29423830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0132-5
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