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Items: 1 to 20 of 183

1.

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.

Klepper J, Voit T.

Eur J Pediatr. 2002 Jun;161(6):295-304. Epub 2002 Apr 16. Review.

PMID:
12029447
2.

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;53(12):1154-6. doi: 10.1111/j.1469-8749.2011.04082.x. Epub 2011 Aug 12.

3.

Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.

Ito Y, Gertsen E, Oguni H, Nakayama T, Matsuo M, Funatsuka M, Voit T, Klepper J, Osawa M.

Brain Dev. 2005 Jun;27(4):311-7. Epub 2004 Dec 9.

PMID:
15862198
4.

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T.

Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24.

5.

Autosomal dominant transmission of GLUT1 deficiency.

Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, Fl├Ârcken A, Voit T.

Hum Mol Genet. 2001 Jan 1;10(1):63-8.

6.

[Glucose transporter type 1 (GLUT-1) deficiency].

Cano A, Ticus I, Chabrol B.

Rev Neurol (Paris). 2008 Nov;164(11):896-901. doi: 10.1016/j.neurol.2008.02.033. Epub 2008 Apr 3. Review. French.

PMID:
18808765
7.

The expanding phenotype of GLUT1-deficiency syndrome.

Brockmann K.

Brain Dev. 2009 Aug;31(7):545-52. doi: 10.1016/j.braindev.2009.02.008. Epub 2009 Mar 21. Review.

PMID:
19304421
8.

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
9.

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.

10.

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

Klepper J, Diefenbach S, Kohlsch├╝tter A, Voit T.

Prostaglandins Leukot Essent Fatty Acids. 2004 Mar;70(3):321-7.

PMID:
14769490
11.

Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?

Klepper J, De Vivo DC, Webb DW, Klinge L, Voit T.

Pediatr Neurol. 2003 Oct;29(4):321-5.

PMID:
14643395
12.

[GLUT-1 deficiency syndrome or De Vivo disease: a case report].

Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B.

Arch Pediatr. 2008 Aug;15(8):1296-9. doi: 10.1016/j.arcped.2008.04.024. Epub 2008 Jun 16. French.

PMID:
18556184
13.

Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.

Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK.

Epilepsy Behav. 2014 Mar;32:76-8. doi: 10.1016/j.yebeh.2014.01.003. Epub 2014 Feb 6.

PMID:
24508593
14.

Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.

Klepper J, Wang D, Fischbarg J, Vera JC, Jarjour IT, O'Driscoll KR, De Vivo DC.

Neurochem Res. 1999 Apr;24(4):587-94.

PMID:
10227690
15.

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet.

Klepper J.

Epilepsia. 2008 Nov;49 Suppl 8:46-9. doi: 10.1111/j.1528-1167.2008.01833.x. Review.

16.

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
17.

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.

Seidner G, Alvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC.

Nat Genet. 1998 Feb;18(2):188-91.

PMID:
9462754
18.

[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].

Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC.

Rev Neurol. 2004 May 1-15;38(9):860-4. Review. Spanish.

19.

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

Wang D, Kranz-Eble P, De Vivo DC.

Hum Mutat. 2000 Sep;16(3):224-31. Erratum in: Hum Mutat 2000 Dec;16(6):527.

PMID:
10980529
20.

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
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