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Journal Abstract Search

433 related items for PubMed ID: 30076047

  • 1.
    ; . PubMed ID:
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  • 2. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
    Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F, MAE working group of EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS.
    Epilepsia; 2015 Dec; 56(12):e203-8. PubMed ID: 26537434
    [Abstract] [Full Text] [Related]

  • 3. 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, Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain..
    Epilepsy Res; 2019 Aug; 154():39-41. PubMed ID: 31035243
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  • 4.
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  • 5. GLUT1 Deficiency Syndrome-Early Treatment Maintains Cognitive Development? (Literature Review and Case Report).
    Kolic I, Radic Nisevic J, Vlasic Cicvaric I, Butorac Ahel I, Lah Tomulic K, Segulja S, Baraba Dekanic K, Serifi S, Ovuka A, Prpic I.
    Genes (Basel); 2021 Aug 31; 12(9):. PubMed ID: 34573360
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  • 7. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
    Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn-Merker E, Hofmann-Peters A, Sperner J, Cross H, Hallmann K, Elger CE, Kunz WS, Madeleyen R, Lerche H, Weber YG.
    Epilepsy Res; 2015 Aug 31; 114():47-51. PubMed ID: 26088884
    [Abstract] [Full Text] [Related]

  • 8. 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 31; 70(Pt A):1-4. PubMed ID: 28407523
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  • 9. [Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome].
    van Kan KEM, Panis B.
    Ned Tijdschr Geneeskd; 2018 Jul 13; 162():. PubMed ID: 30040286
    [Abstract] [Full Text] [Related]

  • 10.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wang D, Pascual JM, De Vivo D.
    ; 1993 Jul 13. PubMed ID: 20301603
    [Abstract] [Full Text] [Related]

  • 11. Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
    Thouin A, Crompton DE.
    Pract Neurol; 2016 Feb 13; 16(1):50-2. PubMed ID: 26336901
    [Abstract] [Full Text] [Related]

  • 12. 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 13; 24():28-32. PubMed ID: 25564316
    [Abstract] [Full Text] [Related]

  • 13. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].
    Larsen J, Stubbings V, Møller RS, Hjalgrim H.
    Ugeskr Laeger; 2013 Dec 09; 175(50A):V04130248. PubMed ID: 25353328
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
    Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC.
    Curr Neurol Neurosci Rep; 2013 Apr 09; 13(4):342. PubMed ID: 23443458
    [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 04; 13(3):. PubMed ID: 33806661
    [Abstract] [Full Text] [Related]

  • 16. 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 04; 39(4):352-355. PubMed ID: 27927575
    [Abstract] [Full Text] [Related]

  • 17. 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 04; 266(6):1439-1448. PubMed ID: 30895386
    [Abstract] [Full Text] [Related]

  • 18. 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 04; 53(12):1154-6. PubMed ID: 21838819
    [Abstract] [Full Text] [Related]

  • 19. GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
    Klepper J.
    Dev Med Child Neurol; 2015 Oct 04; 57(10):896-7. PubMed ID: 25997718
    [No Abstract] [Full Text] [Related]

  • 20. [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 02; 58(11):881-886. PubMed ID: 33120458
    [Abstract] [Full Text] [Related]

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