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(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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Bibliografiske detaljer
Main Authors: Gropman, Andrea L, Seltzer, Rebecca R., Yudkoff, Marc, Sawyer, Alice, vanMeter, John, Fricke, Stanley T.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Online adgang: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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