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25. Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant. Giugno A; Falcone E; Fortunato F; Sammarra I; Procopio R; Gagliardi M; Bauleo A; de Stefano L; Martino I; Gambardella A Eur J Neurol; 2024 Aug; 31(8):e16325. PubMed ID: 38803061 [TBL] [Abstract][Full Text] [Related]
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27. [Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome]. Liu YY; Bao XH; Wang S; Fu N; Liu XY; Song FY; Yang YL; Wu Y; Zhang YH; Wu JX; Jiang YW; Qin J; Wu XR Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):443-7. PubMed ID: 24120063 [TBL] [Abstract][Full Text] [Related]
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30. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Wang D; Kranz-Eble P; De Vivo DC Hum Mutat; 2000 Sep; 16(3):224-31. PubMed ID: 10980529 [TBL] [Abstract][Full Text] [Related]
31. Reconciling contradictory findings: Glucose transporter 1 (GLUT1) functions as an oligomer of allosteric, alternating access transporters. Lloyd KP; Ojelabi OA; De Zutter JK; Carruthers A J Biol Chem; 2017 Dec; 292(51):21035-21046. PubMed ID: 29066623 [TBL] [Abstract][Full Text] [Related]
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33. GLUT1 deficiency and other glucose transporter diseases. Pascual JM; Wang D; Lecumberri B; Yang H; Mao X; Yang R; De Vivo DC Eur J Endocrinol; 2004 May; 150(5):627-33. PubMed ID: 15132717 [TBL] [Abstract][Full Text] [Related]
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39. Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor. Schoeler NE; Cross JH; Drury S; Lench N; McMahon JM; MacKay MT; Scheffer IE; Sander JW; Sisodiya SM Dev Med Child Neurol; 2015 Oct; 57(10):969-76. PubMed ID: 25914049 [TBL] [Abstract][Full Text] [Related]
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