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Items: 1 to 20 of 76

1.

Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome.

Akasaka M, Kamei A, Araya N, Oyama K, Sasaki M.

Pediatr Int. 2018 Oct;60(10):978-979. doi: 10.1111/ped.13672. Epub 2018 Oct 15. No abstract available.

PMID:
30320424
2.

Perioperative Management of a Child With Glucose Transporter Type 1 Deficiency Syndrome: A Case Report.

Yoshida T, Shimizu K, Suzuki S, Matsuoka Y, Morimatsu H.

A A Pract. 2018 Jul 15;11(2):35-37. doi: 10.1213/XAA.0000000000000727.

PMID:
29634559
3.

Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome.

Almuqbil M, Rivkin MJ, Takeoka M, Yang E, Rodan LH.

Eur J Paediatr Neurol. 2018 May;22(3):544-547. doi: 10.1016/j.ejpn.2018.02.005. Epub 2018 Feb 19.

PMID:
29500071
4.

Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

Daci A, Bozalija A, Jashari F, Krasniqi S.

Int J Mol Sci. 2018 Jan 5;19(1). pii: E122. doi: 10.3390/ijms19010122. Review.

5.

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Tchapyjnikov D, Mikati MA.

Neurologist. 2018 Jan;23(1):17-18. doi: 10.1097/NRL.0000000000000168. Review.

PMID:
29266039
6.

Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.

Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A.

Seizure. 2018 Jan;54:41-44. doi: 10.1016/j.seizure.2017.11.014. Epub 2017 Nov 28.

PMID:
29223885
7.

Comparative study of expression and activity of glucose transporters between stem cell-derived brain microvascular endothelial cells and hCMEC/D3 cells.

Al-Ahmad AJ.

Am J Physiol Cell Physiol. 2017 Oct 1;313(4):C421-C429. doi: 10.1152/ajpcell.00116.2017. Epub 2017 Aug 9.

8.

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH.

PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017.

9.

Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.

Willemsen MA.

Neuropediatrics. 2017 Oct;48(5):327-328. doi: 10.1055/s-0037-1603519. Epub 2017 Jun 5. No abstract available.

PMID:
28582793
10.

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F.

Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.

11.

The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.

Pucciarelli V, Bertoli S, Codari M, De Amicis R, De Giorgis V, Battezzati A, Veggiotti P, Sforza C.

Clin Anat. 2017 Jul;30(5):644-652. doi: 10.1002/ca.22890. Epub 2017 May 22.

PMID:
28459125
12.

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 1;34(6):580-583. doi: 10.4274/balkanmedj.2016.1376. Epub 2017 Apr 13.

13.

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. doi: 10.1016/j.yebeh.2017.02.016. Epub 2017 Apr 10.

PMID:
28407523
14.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

15.

Short-term impact of a classical ketogenic diet on gut microbiota in GLUT1 Deficiency Syndrome: A 3-month prospective observational study.

Tagliabue A, Ferraris C, Uggeri F, Trentani C, Bertoli S, de Giorgis V, Veggiotti P, Elli M.

Clin Nutr ESPEN. 2017 Feb;17:33-37. doi: 10.1016/j.clnesp.2016.11.003. Epub 2016 Dec 18.

PMID:
28361745
16.

Paroxysmal eye-head movements in Glut1 deficiency syndrome.

Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC.

Neurology. 2017 Apr 25;88(17):1666-1673. doi: 10.1212/WNL.0000000000003867. Epub 2017 Mar 24.

17.

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H.

Clin Genet. 2017 Jun;91(6):932-933. doi: 10.1111/cge.12902. Epub 2017 Jan 26.

PMID:
28124377
18.

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

Vaudano AE, Olivotto S, Ruggieri A, Gessaroli G, De Giorgis V, Parmeggiani A, Veggiotti P, Meletti S.

Neuroimage Clin. 2016 Dec 21;13:446-454. doi: 10.1016/j.nicl.2016.12.026. eCollection 2017.

19.

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

Tang M, Gao G, Rueda CB, Yu H, Thibodeaux DN, Awano T, Engelstad KM, Sanchez-Quintero MJ, Yang H, Li F, Li H, Su Q, Shetler KE, Jones L, Seo R, McConathy J, Hillman EM, Noebels JL, De Vivo DC, Monani UR.

Nat Commun. 2017 Jan 20;8:14152. doi: 10.1038/ncomms14152.

20.

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. doi: 10.1016/j.braindev.2016.11.007. Epub 2016 Dec 5.

PMID:
27927575

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