Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

OBJECTIVE: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). METHODS: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. RESULTS: We found a significant increase of free sialic aci...

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Detalhes bibliográficos
Main Authors: Mochel, F, Engelke, U F.H., Barritault, J, Yang, B, McNeill, N H., Thompson, J N., Vanderver, A, Wolf, N I., Willemsen, M A., Verheijen, F W., Seguin, F, Wevers, R A., Schiffmann, R
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Neurology 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3122303/
https://ncbi.nlm.nih.gov/pubmed/20101035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181cbcdc4
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