Article
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.
Molecular genetics and metabolism - 1 May 2008
Gropman Andrea L, Seltzer Rebecca R, Yudkoff Marc, Sawyer Alice, VanMeter John, Fricke Stanley T
Abstract excerpt
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 severity. We performed single voxel 3.0T (1)H MRS in two adult sisters with partial OTCD, one symptomatic and one...
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