De Vivo DC - Search Results

1

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

Wang D, Kranz-Eble P, De Vivo DC. Wang D, et al. Among authors: de vivo dc. Hum Mutat. 2000 Sep;16(3):224-31. doi: 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10980529

2

GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro.

Klepper J, Fischbarg J, Vera JC, Wang D, De Vivo DC. Klepper J, et al. Among authors: de vivo dc. Pediatr Res. 1999 Dec;46(6):677-83. doi: 10.1203/00006450-199912000-00006. Pediatr Res. 1999. PMID: 10590023

3

[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. Pascual JM, et al. Among authors: de vivo dc. Rev Neurol. 2004 May 1-15;38(9):860-4. Rev Neurol. 2004. PMID: 15152356 Free article. Review. Spanish.

4

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.

Fujii T, Garcia Alvarez MB, Sheu KF, Kranz-Eble PJ, De Vivo DC. Fujii T, et al. Among authors: de vivo dc. Pediatr Neurol. 1996 May;14(4):328-34. doi: 10.1016/0887-8994(96)00058-6. Pediatr Neurol. 1996. PMID: 8962591 Free article.

5

Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome.

Klepper J, Garcia-Alvarez M, O'Driscoll KR, Parides MK, Wang D, Ho YY, De Vivo DC. Klepper J, et al. Among authors: de vivo dc. J Clin Lab Anal. 1999;13(3):116-21. doi: 10.1002/(SICI)1098-2825(1999)13:3<116::AID-JCLA5>3.0.CO;2-C. J Clin Lab Anal. 1999. PMID: 10323476 Free PMC article.

6

Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.

Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC. Ho YY, et al. Among authors: de vivo dc. Pediatr Res. 2001 Aug;50(2):254-60. doi: 10.1203/00006450-200108000-00015. Pediatr Res. 2001. PMID: 11477212

7

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Brockmann K, et al. Among authors: de vivo dc. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222. Ann Neurol. 2001. PMID: 11603379

8

GLUT-1 deficiency without epilepsy--an exceptional case.

Overweg-Plandsoen WC, Groener JE, Wang D, Onkenhout W, Brouwer OF, Bakker HD, De Vivo DC. Overweg-Plandsoen WC, et al. Among authors: de vivo dc. J Inherit Metab Dis. 2003;26(6):559-63. doi: 10.1023/a:1025999914822. J Inherit Metab Dis. 2003. PMID: 14605501

9

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. Klepper J, et al. Among authors: de vivo dc. Neurochem Res. 1999 Apr;24(4):587-94. doi: 10.1023/a:1022544131826. Neurochem Res. 1999. PMID: 10227690

10

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

Santorelli FM, Mak SC, Vazquez-Memije ME, Shanske S, Kranz-Eble P, Jain KD, Bluestone DL, De Vivo DC, DiMauro S. Santorelli FM, et al. Among authors: de vivo dc. Pediatr Res. 1996 May;39(5):914-7. doi: 10.1203/00006450-199605000-00028. Pediatr Res. 1996. PMID: 8726250

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