Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases

BACKGROUND: In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern. METHODS: We used a non-a priori method of in vitro (1)H-NMR spectros...

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Autori principali: Mochel, Fanny, Boildieu, Nadège, Barritault, Julie, Sarret, Catherine, Eymard-Pierre, Eleonore, Seguin, François, Schiffmann, Raphael, Boespflug-Tanguy, Odile
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2943030/
https://ncbi.nlm.nih.gov/pubmed/20637281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2010.07.005
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