De Vivo DC - Search Results

1

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC. Wang D, et al. Among authors: de vivo dc. Pediatr Res. 2008 Nov;64(5):538-43. doi: 10.1203/PDR.0b013e318184d2b5. Pediatr Res. 2008. PMID: 18614966

2

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.

Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, Kuang K, De Vivo DC, Fischbarg J. Iserovich P, et al. Among authors: de vivo dc. J Biol Chem. 2002 Aug 23;277(34):30991-7. doi: 10.1074/jbc.M202763200. Epub 2002 May 24. J Biol Chem. 2002. PMID: 12032147 Free article.

3

EEG features of glut-1 deficiency syndrome.

von Moers A, Brockmann K, Wang D, Korenke CG, Huppke P, De Vivo DC, Hanefeld F. von Moers A, et al. Among authors: de vivo dc. Epilepsia. 2002 Aug;43(8):941-5. doi: 10.1046/j.1528-1157.2002.50401.x. Epilepsia. 2002. PMID: 12181017 Free article.

4

Imaging the metabolic footprint of Glut1 deficiency on the brain.

Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Pascual JM, et al. Among authors: de vivo dc. Ann Neurol. 2002 Oct;52(4):458-64. doi: 10.1002/ana.10311. Ann Neurol. 2002. PMID: 12325075

5

Glucose transporter protein syndromes.

De Vivo DC, Wang D, Pascual JM, Ho YY. De Vivo DC, et al. Int Rev Neurobiol. 2002;51:259-88. doi: 10.1016/s0074-7742(02)51008-4. Int Rev Neurobiol. 2002. PMID: 12420362 Review. No abstract available.

6

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. Sacconi S, et al. Among authors: de vivo dc. Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A. Pediatr Res. 2003. PMID: 12538779

7

Glucose transporter 1 deficiency syndrome and other glycolytic defects.

De Vivo DC, Leary L, Wang D. De Vivo DC, et al. J Child Neurol. 2002 Dec;17 Suppl 3:3S15-23; discussion 3S24-5. J Child Neurol. 2002. PMID: 12597052 Review.

8

Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Leary LD, et al. Among authors: de vivo dc. Epilepsia. 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x. Epilepsia. 2003. PMID: 12752470 Free article.

9

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.

Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Wang D, et al. Among authors: de vivo dc. J Biol Chem. 2003 Dec 5;278(49):49015-21. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16. J Biol Chem. 2003. PMID: 13129919 Free article.

10

Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?

Klepper J, De Vivo DC, Webb DW, Klinge L, Voit T. Klepper J, et al. Among authors: de vivo dc. Pediatr Neurol. 2003 Oct;29(4):321-5. doi: 10.1016/s0887-8994(03)00268-6. Pediatr Neurol. 2003. PMID: 14643395

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