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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: willemsen ma. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Hypoglycorrhachia: a simple clue, simply missed.
Willemsen MA, Verrips A, Verbeek MM, Voit T, Klepper J. Willemsen MA, et al. Ann Neurol. 2001 May;49(5):685-6. Ann Neurol. 2001. PMID: 11357965 No abstract available.
Chronic herpes simplex virus encephalitis in childhood.
Leen WG, Weemaes CM, Verbeek MM, Willemsen MA, Rotteveel JJ. Leen WG, et al. Among authors: willemsen ma. Pediatr Neurol. 2006 Jul;35(1):57-61. doi: 10.1016/j.pediatrneurol.2005.12.015. Pediatr Neurol. 2006. PMID: 16814088
Tyrosine hydroxylase deficiency with severe clinical course.
Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. Zafeiriou DI, et al. Among authors: willemsen ma. Mol Genet Metab. 2009 May;97(1):18-20. doi: 10.1016/j.ymgme.2009.02.001. Epub 2009 Feb 10. Mol Genet Metab. 2009. PMID: 19282209
252 results