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(1)H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

OBJECTIVE: To evaluate brain metabolism in subjects with partial ornithine transcarbamylase deficiency (OTCD) utilizing (1)H MRS. METHODS: Single voxel (1)H MRS was performed on 25 medically-stable adults with partial OTCD, and 22 similarly aged controls. Metabolite concentrations from frontal and p...

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Hlavní autoři: Gropman, A. L., Fricke, S. F., Seltzer, R. R., Hailu, A., Adeyemo, A., Sawyer, A., van Meter, J., Gaillard, W. D., McCarter, R., Tuchman, M., Batshaw, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3724938/
https://ncbi.nlm.nih.gov/pubmed/18662894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.06.003
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