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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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab
Hauptverfasser: Sprouse, Courtney, King, Jessica, Helman, Guy, Pacheco-Colón, Ileana, Shattuck, Kyle, Breeden, Andrew, Seltzer, Rebecca, VanMeter, John W., Gropman, Andrea L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang: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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