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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: 2014
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items