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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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Dades bibliogràfiques
Publicat a:J Inherit Metab Dis
Autors principals: Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia: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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