De Vivo DC - Search Results

1

Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

Rotstein M, Engelstad K, Yang H, Wang D, Levy B, Chung WK, De Vivo DC. Rotstein M, et al. Among authors: de vivo dc. Ann Neurol. 2010 Dec;68(6):955-8. doi: 10.1002/ana.22088. Ann Neurol. 2010. PMID: 20687207 Free PMC article.

2

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

Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Wang D, et al. Among authors: de vivo dc. Ann Neurol. 2005 Jan;57(1):111-8. doi: 10.1002/ana.20331. Ann Neurol. 2005. PMID: 15622525 Clinical Trial.

3

A mouse model for Glut-1 haploinsufficiency.

Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC. Wang D, et al. Among authors: de vivo dc. Hum Mol Genet. 2006 Apr 1;15(7):1169-79. doi: 10.1093/hmg/ddl032. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497725

4

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

5

Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis.

Levy B, Wang D, Ullner PM, Engelstad K, Yang H, Nahum O, Chung WK, De Vivo DC. Levy B, et al. Among authors: de vivo dc. Mol Genet Metab. 2010 Jun;100(2):129-35. doi: 10.1016/j.ymgme.2010.03.007. Epub 2010 Mar 17. Mol Genet Metab. 2010. PMID: 20382060

6

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

Yang H, Wang D, Engelstad K, Bagay L, Wei Y, Rotstein M, Aggarwal V, Levy B, Ma L, Chung WK, De Vivo DC. Yang H, et al. Among authors: de vivo dc. Ann Neurol. 2011 Dec;70(6):996-1005. doi: 10.1002/ana.22640. Ann Neurol. 2011. PMID: 22190371

7

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Pearson TS, et al. Among authors: de vivo dc. Curr Neurol Neurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Curr Neurol Neurosci Rep. 2013. PMID: 23443458 Review.

8

Paroxysmal eye-head movements in Glut1 deficiency syndrome.

Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC. Pearson TS, et al. Among authors: de vivo dc. Neurology. 2017 Apr 25;88(17):1666-1673. doi: 10.1212/WNL.0000000000003867. Epub 2017 Mar 24. Neurology. 2017. PMID: 28341645 Free PMC article.

9

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

10

GLUT1 deficiency and other glucose transporter diseases.

Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. Pascual JM, et al. Among authors: de vivo dc. Eur J Endocrinol. 2004 May;150(5):627-33. doi: 10.1530/eje.0.1500627. Eur J Endocrinol. 2004. PMID: 15132717 Review.

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