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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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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| 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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