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Items: 1 to 20 of 27

1.

The changing face of dietary therapy for epilepsy.

Pasca L, De Giorgis V, Macasaet JA, Trentani C, Tagliabue A, Veggiotti P.

Eur J Pediatr. 2016 Oct;175(10):1267-76. doi: 10.1007/s00431-016-2765-z. Epub 2016 Sep 1. Review.

PMID:
27586246
2.

Lactate and its many faces.

Taher M, Leen WG, Wevers RA, Willemsen MA.

Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Review.

PMID:
26481417
3.

Ketogenic diets in patients with inherited metabolic disorders.

Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D.

J Inherit Metab Dis. 2015 Jul;38(4):765-73. doi: 10.1007/s10545-015-9872-2. Epub 2015 Jun 25. Review.

PMID:
26109259
4.

Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.

Raja M, Kinne RK.

Biophys Chem. 2015 May-Jun;200-201:9-17. doi: 10.1016/j.bpc.2015.03.005. Epub 2015 Mar 25. Review.

PMID:
25863194
5.

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Szczepanik E, Terczyńska I, Kruk M, Lipiec A, Dudko E, Tryfon J, Jurek M, Hoffman-Zacharska D.

Dev Period Med. 2015 Oct-Dec;19(4):454-63. Review.

6.

[Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].

Larsen J, Stubbings V, Møller RS, Hjalgrim H.

Ugeskr Laeger. 2013 Dec 9;175(50A):V04130248. Review. Danish.

PMID:
25353328
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.

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.

Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG.

J Neurol. 2014 Oct;261(10):1881-6. doi: 10.1007/s00415-014-7433-5. Epub 2014 Jul 15. Review.

PMID:
25022942
9.

[Dietary therapy of epilepsy].

Imai K, Ishihara E, Ikeda H.

Nihon Rinsho. 2014 May;72(5):875-80. Review. Japanese.

PMID:
24912289
10.

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.

Ragona F, Matricardi S, Castellotti B, Patrini M, Freri E, Binelli S, Granata T.

Neuropediatrics. 2014 Oct;45(5):328-32. doi: 10.1055/s-0034-1378130. Epub 2014 Jun 3. Review.

PMID:
24892788
11.

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

J Neurol. 2014 Mar;261(3):589-99. doi: 10.1007/s00415-014-7240-z. Epub 2014 Jan 12. Review.

PMID:
24413642
12.

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA.

Neurology. 2013 Dec 10;81(24):e178-81. doi: 10.1212/01.wnl.0000437294.20817.99. Review.

PMID:
24323444
13.

GLUT1 deficiency syndrome: an update.

Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F.

Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20. Review.

PMID:
24269118
14.

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
15.

GLUT1 deficiency syndrome 2013: current state of the art.

De Giorgis V, Veggiotti P.

Seizure. 2013 Dec;22(10):803-11. doi: 10.1016/j.seizure.2013.07.003. Epub 2013 Jul 26. Review.

16.

Glucide metabolism disorders (excluding glycogen myopathies).

Klepper J.

Handb Clin Neurol. 2013;113:1689-94. doi: 10.1016/B978-0-444-59565-2.00036-8. Review.

PMID:
23622389
17.

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;13(4):342. doi: 10.1007/s11910-013-0342-7. Review.

PMID:
23443458
18.

Glut1 deficiency: when to suspect and how to diagnose?

Verrotti A, D'Egidio C, Agostinelli S, Gobbi G.

Eur J Paediatr Neurol. 2012 Jan;16(1):3-9. doi: 10.1016/j.ejpn.2011.09.005. Epub 2011 Oct 1. Review.

PMID:
21962875
19.

GLUT1 deficiency syndrome in clinical practice.

Klepper J.

Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011.02.007. Epub 2011 Mar 5. Review.

PMID:
21382692
20.

Will the original glucose transporter isoform please stand up!

Carruthers A, DeZutter J, Ganguly A, Devaskar SU.

Am J Physiol Endocrinol Metab. 2009 Oct;297(4):E836-48. doi: 10.1152/ajpendo.00496.2009. Epub 2009 Aug 18. Review.

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