BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

96 related articles for article (PubMed ID: 28407523)

  • 1. 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]  

  • 2. GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.
    Falsaperla R; Sortino V; Vitaliti G; Privitera GF; Ruggieri M; Fusto G; Pappalardo XG
    Neurogenetics; 2024 Apr; 25(2):69-78. PubMed ID: 38190079
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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 May; ():e16325. PubMed ID: 38803061
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS.
    Mortaji S; Dozières-Puyravel B; Geraldes K; Perrot C; Quéméner V; Auvin S
    Eur J Paediatr Neurol; 2023 Jul; 45():19-21. PubMed ID: 37244032
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Is ketogenic diet a 'precision medicine'? Recent developments and future challenges.
    Falsaperla R; Sortino V; Striano P; Kluger G; Ramantani G; Ruggieri M;
    Eur J Paediatr Neurol; 2024 Jan; 48():13-16. PubMed ID: 37984007
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome.
    Kim YS; Kim W; Na JH; Lee YM
    Clin Nutr Res; 2023 Jul; 12(3):169-176. PubMed ID: 37593212
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
    Jiménez Legido M; Cortés Ledesma C; Bernardino Cuesta B; López Marín L; Cantarín Extremera V; Pérez-Cerdá C; Pérez González B; López Martín E; González Gutiérrez-Solana L
    Neurologia (Engl Ed); 2022 Mar; 37(2):91-100. PubMed ID: 31047728
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.
    Olivotto S; Freddi A; Previtali R; Mauri A; Cereda C; De Amicis R; Bertoli S; Doneda C; Veggiotti P
    Pediatr Neurol; 2024 Jun; 157():118-126. PubMed ID: 38914025
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome.
    Nabatame S; Kishimoto K; Mano T
    Epileptic Disord; 2024 Jun; 26(3):404-406. PubMed ID: 38491976
    [No Abstract]   [Full Text] [Related]  

  • 11. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
    Tayebi N; Leon-Ricardo B; McCall K; Mehinovic E; Engelstad K; Huynh V; Turner TN; Weisenberg J; Thio LL; Hruz P; Williams RSB; De Vivo DC; Petit V; Haller G; Gurnett CA
    Ann Clin Transl Neurol; 2023 May; 10(5):787-801. PubMed ID: 37000947
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort.
    van Gemert LA; Pascual JM; Willemsen MA
    Eur J Paediatr Neurol; 2023 Jul; 45():55-56. PubMed ID: 37307629
    [No Abstract]   [Full Text] [Related]  

  • 13. GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult.
    Horckmans S; Van Paesschen W
    Acta Neurol Belg; 2024 Apr; 124(2):699-700. PubMed ID: 37733158
    [No Abstract]   [Full Text] [Related]  

  • 14. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
    Mochel F; Gras D; Luton MP; Nizou M; Giovannini D; Delattre C; Aubart M; Barth M; De Saint-Martin A; Doummar D; Essid N; Garros A; Le Camus CH; Hoebeke C; The Tich SN; Perivier M; Rivera S; Rolland A; Roubertie A; Sarret C; Sevin C; Ville D; Sitbon M; Costa JM; Pons R; Garcia-Cazorla A; Vuillaumier S; Petit V; Boespflug-Tanguy O; De Vivo DC;
    Neurology; 2023 Jun; 100(23):e2360-e2373. PubMed ID: 37076312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet.
    Varesio C; Zanaboni MP; Pasca L; Provenzi L; Ferraris C; Tagliabue A; Pezzotti E; Carpani A; Veggiotti P; DE Giorgis V
    Minerva Pediatr (Torino); 2024 Apr; 76(2):189-196. PubMed ID: 33820407
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
    Klepper J; Akman C; Armeno M; Auvin S; Cervenka M; Cross HJ; De Giorgis V; Della Marina A; Engelstad K; Heussinger N; Kossoff EH; Leen WG; Leiendecker B; Monani UR; Oguni H; Neal E; Pascual JM; Pearson TS; Pons R; Scheffer IE; Veggiotti P; Willemsen M; Zuberi SM; De Vivo DC
    Epilepsia Open; 2020 Sep; 5(3):354-365. PubMed ID: 32913944
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature.
    Salazar MF; Leal-Witt MJ; Parga V; Arias C; Cornejo V
    Front Nutr; 2024; 11():1390799. PubMed ID: 38818131
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [The genetics of epilepsy in the clinical practice].
    de la Torre A
    Medicina (B Aires); 2023 Sep; 83 Suppl 4():9-12. PubMed ID: 37714116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
    Srour M; Shimokawa N; Hamdan FF; Nassif C; Poulin C; Al Gazali L; Rosenfeld JA; Koibuchi N; Rouleau GA; Al Shamsi A; Michaud JL
    Am J Hum Genet; 2017 May; 100(5):824-830. PubMed ID: 28434495
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.