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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2009
Konular:
Original Articles
Online Erişim: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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