(1)H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

We used (1)H MRS to evaluate brain metabolic differences in sisters with partial ornithine transcarbamylase deficiency (OTCD) who had discordant clinical symptoms and urea synthetic capabilities to assess whether a brain biomarker of partial OTCD correlated with urea synthetic ability and clinical s...

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Autores principales: Gropman, Andrea L, Seltzer, Rebecca R., Yudkoff, Marc, Sawyer, Alice, vanMeter, John, Fricke, Stanley T.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2486377/
https://ncbi.nlm.nih.gov/pubmed/18262815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2007.12.008
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