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Investigating Neurological Deficits in Carriers and Affected Patients with Ornithine Transcarbamylase Deficiency

BACKGROUND: Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on Ornithine Transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Sprouse, Courtney, King, Jessica, Helman, Guy, Pacheco-Colón, Ileana, Shattuck, Kyle, Breeden, Andrew, Seltzer, Rebecca, VanMeter, John W., Gropman, Andrea L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4458385/
https://ncbi.nlm.nih.gov/pubmed/24881970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.05.007
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