Free Sialic Acid Storage Disease without sialuria

We performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on CSF and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid was elevated in CSF of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion o...

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Hauptverfasser: Mochel, F., Yang, B.Z., Barritault, J., Thompson, J.N., Engelke, U.F.H., McNeill, N.H, Benko, W.S., Kaneski, C.R., Adams, D.R., Tsokos, M., Abu-Asab, M., Huizing, M., Seguin, F., Wevers, R.A., Ding, J.H., Verheijen, F.W., Schiffmann, R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3508714/
https://ncbi.nlm.nih.gov/pubmed/19557856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.21624
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