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Advances in Urea cycle Neuroimaging: Proceedings from the 4th International symposium on Urea cycle disorders, Barcelona, Spain, September 2013

Our previous imaging research performed as part of a Urea Cycle Rare Disorders Consortium (UCRDC) grant, has identified specific biomarkers of neurologic injury in ornithine transcarbamylase deficiency, OTCD. While characterization of mutations can be achieved in most cases, this information does no...

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Autors principals: Pacheco-Colon, Ileana, Fricke, Stanley, VanMeter, John, Gropman, M.D.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4177962/
https://ncbi.nlm.nih.gov/pubmed/25066103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.05.005
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