BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 32247176)

  • 1. Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
    Winczewska-Wiktor A; Hoffman-Zacharska D; Starczewska M; Kaczmarek I; Badura-Stronka M; Steinborn B
    Epilepsy Behav; 2020 May; 106():107036. PubMed ID: 32247176
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.
    Ramm-Pettersen A; Nakken KO; Haavardsholm KC; Selmer KK
    Epilepsy Behav; 2017 May; 70(Pt A):1-4. PubMed ID: 28407523
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Jeavons syndrome in a family with GLUT1-deficiency syndrome.
    Madaan P; Jauhari P; Chakrabarty B; Gulati S
    Seizure; 2019 Oct; 71():158-160. PubMed ID: 31352161
    [No Abstract]   [Full Text] [Related]  

  • 5. Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
    Soto-Insuga V; López RG; Losada-Del Pozo R; Rodrigo-Moreno M; Cayuelas EM; Giráldez BG; Díaz-Gómez E; Sánchez-Martín G; García LO; Serratosa JM;
    Epilepsy Res; 2019 Aug; 154():39-41. PubMed ID: 31035243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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]  

  • 7. 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]  

  • 8. Sporadic and familial glut1ds Italian patients: A wide clinical variability.
    De Giorgis V; Teutonico F; Cereda C; Balottin U; Bianchi M; Giordano L; Olivotto S; Ragona F; Tagliabue A; Zorzi G; Nardocci N; Veggiotti P
    Seizure; 2015 Jan; 24():28-32. PubMed ID: 25564316
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The many faces of Glut1 deficiency syndrome.
    Tzadok M; Nissenkorn A; Porper K; Matot I; Marcu S; Anikster Y; Menascu S; Bercovich D; Ben Zeev B
    J Child Neurol; 2014 Mar; 29(3):349-59. PubMed ID: 23340081
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
    Fung EL; Ho YY; Hui J; Wong JH; Ng TB; Fong NY; Klepper J; Tsui KW
    Brain Dev; 2011 Feb; 33(2):170-3. PubMed ID: 20417043
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [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]  

  • 15. 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]  

  • 16. The glucose transporter type 1 (Glut1) syndromes.
    Koch H; Weber YG
    Epilepsy Behav; 2019 Feb; 91():90-93. PubMed ID: 30076047
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of non-coding variation in GLUT1 deficiency.
    Liu YC; Lee JW; Bellows ST; Damiano JA; Mullen SA; Berkovic SF; Bahlo M; Scheffer IE; Hildebrand MS;
    Dev Med Child Neurol; 2016 Dec; 58(12):1295-1302. PubMed ID: 27265003
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation.
    Pawlik W; Okulewicz P; Pawlik J; Krzywińska-Zdeb E
    Int J Environ Res Public Health; 2022 Mar; 19(6):. PubMed ID: 35328965
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.
    Dozières-Puyravel B; Zaman S; Petrou S; François L; Vuillaumier-Barrot S; Mochel F; Gras D; Auvin S
    Brain Dev; 2019 Oct; 41(9):808-811. PubMed ID: 31196579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.
    Wang YY; Zhou YQ; Luo LJ; Wang CJ; Shen N; Li H; Wang JW
    World J Pediatr; 2024 May; 20(5):517-524. PubMed ID: 36303089
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.