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Items: 1 to 20 of 101

1.

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation.

Chambon R, Vuillaumier-Barrot S, Seta N, Wagner S, Sarret C.

Mov Disord. 2013 Oct;28(12):1749-51. doi: 10.1002/mds.25484. No abstract available.

PMID:
23649827
2.

Towards a more palatable treatment for Glut1 deficiency syndrome.

Brockmann K.

Dev Med Child Neurol. 2011 Jul;53(7):580-1. doi: 10.1111/j.1469-8749.2011.03946.x. No abstract available.

3.

Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

Haberlandt E, Karall D, Jud V, Baumgartner SS, Zotter S, Rostasy K, Baumann M, Scholl-Buergi S.

Neuropediatrics. 2014 Apr;45(2):117-9. doi: 10.1055/s-0033-1349225.

PMID:
23888468
4.

Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.

Klepper J.

Neuropediatrics. 2013 Aug;44(4):235-6. doi: 10.1055/s-0033-1336015.

PMID:
23483445
5.

A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.

Ito Y, Oguni H, Ito S, Oguni M, Osawa M.

Dev Med Child Neurol. 2011 Jul;53(7):658-63. doi: 10.1111/j.1469-8749.2011.03961.x.

6.

GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

Klepper J.

Dev Med Child Neurol. 2015 Oct;57(10):896-7. doi: 10.1111/dmcn.12807. No abstract available.

7.

Transition for patients with epilepsy due to metabolic and mitochondrial disorders.

Kossoff EH, Veggiotti P, Genton P, Desguerre I.

Epilepsia. 2014 Aug;55 Suppl 3:37-40. doi: 10.1111/epi.12709. Review.

8.

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

Sen S, Keough K, Gibson J.

Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.

PMID:
25870456
9.
10.

PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1.

Siska PJ, Rathmell JC.

Mol Cell. 2015 Jun 4;58(5):711-2. doi: 10.1016/j.molcel.2015.05.025.

11.

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA.

JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. Review.

PMID:
23999624
12.

GLUT1 deficiency syndrome in clinical practice.

Klepper J.

Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011.02.007. Review.

PMID:
21382692
13.

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Mov Disord. 2013 Sep;28(10):1439-42. doi: 10.1002/mds.25515.

PMID:
23801573
14.

Long-term clinical course of Glut1 deficiency syndrome.

Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC.

J Child Neurol. 2015 Feb;30(2):160-9. doi: 10.1177/0883073814531822.

PMID:
24789115
15.

GLUT-1 deficiency syndrome in Norway--yet another piece of the puzzle.

Klepper J.

Dev Med Child Neurol. 2013 May;55(5):400-1. doi: 10.1111/dmcn.12104. No abstract available.

16.

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE.

Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007.

17.

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC.

Ann Neurol. 2005 Jan;57(1):111-8.

PMID:
15622525
18.

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. doi: 10.1016/j.braindev.2010.03.009.

PMID:
20417043
19.

Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

Vieker S, Schmitt J, Längler A, Schmidt W, Klepper J.

Neuropediatrics. 2012 Oct;43(5):275-8. doi: 10.1055/s-0032-1324399.

PMID:
22976442
20.

Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement.

Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H.

JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.

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