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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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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha: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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