1. F. Mochel, F. Sedel, A. Vanderver, U. F. Engelke, J. Barritault, B. Z. Yang, B. Kulkarni, D. R. Adams, F. Clot, J. H. Ding, C. R. Kaneski, F. W. Verheijen, B. W. Smits, F. Seguin, A. Brice, M. T. Vanier, M. Huizing, R. Schiffmann, A. Durr, and R. A. Wevers. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain, 132(Pt 3):801-9, 2009. Note: 5R24 HD050846/HD/NICHD NIH HHS/United StatesP30HD40677/HD/NICHD NIH HHS/United StatesJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Atrophy/cerebrospinal fluid, Cells, Cultured, Cerebellar Ataxia/*cerebrospinal fluid/pathology, Cerebellum/pathology, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Magnetic Resonance Imaging/methods, Magnetic Resonance Spectroscopy/methods, Male, Middle Aged, N-Acetylneuraminic Acid/*cerebrospinal fluid, Transferrin/cerebrospinal fluid.



2. F. Mochel, B. Yang, J. Barritault, J. N. Thompson, U. F. Engelke, N. H. McNeill, W. S. Benko, C. R. Kaneski, D. R. Adams, M. Tsokos, M. Abu-Asab, M. Huizing, F. Seguin, R. A. Wevers, J. Ding, F. W. Verheijen, and R. Schiffmann. Free sialic acid storage disease without sialuria. Ann Neurol, 65(6):753-7, 2009. Note: Case ReportsComparative StudyJournal ArticleResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Child, Diagnosis, Differential, Hereditary Central Nervous System Demyelinating Diseases/cerebrospinal, fluid/diagnosis/genetics/urine, Humans, N-Acetylneuraminic Acid/*cerebrospinal fluid/genetics/urine, Nuclear Magnetic Resonance, Biomolecular/methods, Organic Anion Transporters/*genetics, Sialic Acid Storage Disease/cerebrospinal fluid/diagnosis/*genetics/urine, Symporters/*genetics, Young Adult.

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