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529 results

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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: wevers ra. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Paediatric cerebrotendinous xanthomatosis.
Wevers RA, Cruysberg JR, Van Heijst AF, Janssen-Zijlstra FS, Renier WO, Van Engelen BG, Tolboom JJ. Wevers RA, et al. J Inherit Metab Dis. 1992;15(3):374-6. doi: 10.1007/BF02435980. J Inherit Metab Dis. 1992. PMID: 1405473 No abstract available.
Ocular and systemic manifestations of cerebrotendinous xanthomatosis.
Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ. Cruysberg JR, et al. Among authors: wevers ra. Am J Ophthalmol. 1995 Nov;120(5):597-604. doi: 10.1016/s0002-9394(14)72206-8. Am J Ophthalmol. 1995. PMID: 7485361
Genetic characteristics of myoadenylate deaminase deficiency.
Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: wevers ra. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.
Dopa-responsive dystonia: a clinical and molecular genetic study.
Bandmann O, Valente EM, Holmans P, Surtees RA, Walters JH, Wevers RA, Marsden CD, Wood NW. Bandmann O, et al. Among authors: wevers ra. Ann Neurol. 1998 Oct;44(4):649-56. doi: 10.1002/ana.410440411. Ann Neurol. 1998. PMID: 9778264
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: wevers ra. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841
529 results