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Journal Abstract Search

247 related items for PubMed ID: 22622956

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  • 2. 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.
    Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
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  • 7. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
    Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA.
    Neuropediatrics; 2005 Oct; 36(5):302-8. PubMed ID: 16217704
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  • 11. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
    Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE.
    Neurology; 2010 Aug 03; 75(5):432-40. PubMed ID: 20574033
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  • 14. GLUT1 deficiency syndrome--2007 update.
    Klepper J, Leiendecker B.
    Dev Med Child Neurol; 2007 Sep 03; 49(9):707-16. PubMed ID: 17718830
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  • 17. Autosomal recessive inheritance of GLUT1 deficiency syndrome.
    Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T.
    Neuropediatrics; 2009 Oct 03; 40(5):207-10. PubMed ID: 20221955
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  • 19. Novel mutation in a patient with late onset GLUT1 deficiency syndrome.
    Juozapaite S, Praninskiene R, Burnyte B, Ambrozaityte L, Skerliene B.
    Brain Dev; 2017 Apr 03; 39(4):352-355. PubMed ID: 27927575
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