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5. 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; 39(4):352-355. PubMed ID: 27927575 [TBL] [Abstract][Full Text] [Related]
6. A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet. Tornese G; Patti G; Pellegrin MC; Costa P; Faletra F; Faleschini E; Barbi E Ital J Pediatr; 2020 Aug; 46(1):119. PubMed ID: 32847563 [TBL] [Abstract][Full Text] [Related]
7. Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. Hewson S; Brunga L; Ojeda MF; Imhof E; Patel J; Zak M; Donner EJ; Kobayashi J; Salomons GS; Mercimek-Andrews S Can J Neurol Sci; 2018 Jan; 45(1):93-96. PubMed ID: 29144225 [TBL] [Abstract][Full Text] [Related]
8. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Çolak R; Alkan Özdemir S; Yangın Ergon E; Kağnıcı M; Çalkavur Ş Balkan Med J; 2017 Dec; 34(6):580-583. PubMed ID: 28443597 [TBL] [Abstract][Full Text] [Related]
9. Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study. Ramm-Pettersen A; Stabell KE; Nakken KO; Selmer KK Epilepsy Behav; 2014 Oct; 39():111-5. PubMed ID: 25240122 [TBL] [Abstract][Full Text] [Related]
10. [Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome]. van Kan KEM; Panis B Ned Tijdschr Geneeskd; 2018 Jul; 162():. PubMed ID: 30040286 [TBL] [Abstract][Full Text] [Related]
12. From splitting GLUT1 deficiency syndromes to overlapping phenotypes. Hully M; Vuillaumier-Barrot S; Le Bizec C; Boddaert N; Kaminska A; Lascelles K; de Lonlay P; Cances C; des Portes V; Roubertie A; Doummar D; LeBihannic A; Degos B; de Saint Martin A; Flori E; Pedespan JM; Goldenberg A; Vanhulle C; Bekri S; Roubergue A; Heron B; Cournelle MA; Kuster A; Chenouard A; Loiseau MN; Valayannopoulos V; Chemaly N; Gitiaux C; Seta N; Bahi-Buisson N Eur J Med Genet; 2015 Sep; 58(9):443-54. PubMed ID: 26193382 [TBL] [Abstract][Full Text] [Related]
13. Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. Koy A; Assmann B; Klepper J; Mayatepek E Dev Med Child Neurol; 2011 Dec; 53(12):1154-6. PubMed ID: 21838819 [TBL] [Abstract][Full Text] [Related]
14. [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]
15. Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases. Ruiz Herrero J; Cañedo Villarroya E; González Gutiérrez-Solana L; García Alcolea B; Gómez Fernández B; Puerta Macfarland LA; Pedrón-Giner C Nutrients; 2021 Mar; 13(3):. PubMed ID: 33806661 [TBL] [Abstract][Full Text] [Related]
16. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes. Castellotti B; Ragona F; Freri E; Solazzi R; Ciardullo S; Tricomi G; Venerando A; Salis B; Canafoglia L; Villani F; Franceschetti S; Nardocci N; Gellera C; DiFrancesco JC; Granata T J Neurol; 2019 Jun; 266(6):1439-1448. PubMed ID: 30895386 [TBL] [Abstract][Full Text] [Related]
18. [Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study]. Yu LF; Zhang YQ; Duan J; Ni Y; Gong XY; Lu ZY; Liao JX; Lu XP; Shi ZN; Lei MF; Zhong JM; Zha J; Zhou SZ Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):881-886. PubMed ID: 33120458 [No Abstract] [Full Text] [Related]
19. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report. Bozkurt T; Alanay Y; Isik U; Sezerman U BMC Med Genomics; 2021 Jul; 14(1):197. PubMed ID: 34332575 [TBL] [Abstract][Full Text] [Related]
20. GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases? Klepper J Dev Med Child Neurol; 2015 Oct; 57(10):896-7. PubMed ID: 25997718 [No Abstract] [Full Text] [Related] [Next] [New Search]