Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal fluid (CSF) samples. We identified five adult patients, including...

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Autors principals: Mochel, F., Sedel, F., Vanderver, A., Engelke, U. F. H., Barritault, J., Yang, B. Z., Kulkarni, B., Adams, D. R., Clot, F., Ding, J. H., Kaneski, C. R., Verheijen, F. W., Smits, B. W., Seguin, F., Brice, A., Vanier, M. T., Huizing, M., Schiffmann, R., Durr, A., Wevers, R. A.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2724924/
https://ncbi.nlm.nih.gov/pubmed/19153153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn355
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