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Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Mochel F, et al. Among authors: verheijen fw. Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. Ann Neurol. 2009. PMID: 19557856 Free PMC article.
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Mochel F, et al. Among authors: verheijen fw. Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19. Brain. 2009. PMID: 19153153 Free PMC article.
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.
Yarovaya N, Schot R, Fodero L, McMahon M, Mahoney A, Williams R, Verbeek E, de Bondt A, Hampson M, van der Spek P, Stubbs A, Masters CL, Verheijen FW, Mancini GM, Venter DJ. Yarovaya N, et al. Among authors: verheijen fw. Neurobiol Dis. 2005 Aug;19(3):351-65. doi: 10.1016/j.nbd.2004.12.020. Neurobiol Dis. 2005. PMID: 16023578
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Göhlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R. Stroobants S, et al. Among authors: verheijen fw. Exp Neurol. 2017 May;291:106-119. doi: 10.1016/j.expneurol.2017.02.009. Epub 2017 Feb 9. Exp Neurol. 2017. PMID: 28189729 Free article.
90 results