Engelstad K - Search Results

1

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: engelstad k. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.

2

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: engelstad k. Ann Neurol. 2002 Oct;52(4):458-64. doi: 10.1002/ana.10311. Ann Neurol. 2002. PMID: 12325075

3

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: engelstad k. Ann Neurol. 2005 Jan;57(1):111-8. doi: 10.1002/ana.20331. Ann Neurol. 2005. PMID: 15622525 Clinical Trial.

4

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: engelstad k. Ann Neurol. 2010 Dec;68(6):955-8. doi: 10.1002/ana.22088. Ann Neurol. 2010. PMID: 20687207 Free PMC article.

5

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: engelstad k. Ann Neurol. 2011 Dec;70(6):996-1005. doi: 10.1002/ana.22640. Ann Neurol. 2011. PMID: 22190371

6

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: engelstad k. Neurology. 2017 Apr 25;88(17):1666-1673. doi: 10.1212/WNL.0000000000003867. Epub 2017 Mar 24. Neurology. 2017. PMID: 28341645 Free PMC article.

7

Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.

Engelstad K, Salazar R, Koenigsberger D, Stackowtiz E, Brodlie S, Brandabur M, De Vivo DC. Engelstad K, et al. Ann Clin Transl Neurol. 2021 May;8(5):1151-1157. doi: 10.1002/acn3.51359. Epub 2021 May 1. Ann Clin Transl Neurol. 2021. PMID: 33931985 Free PMC article.

8

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: engelstad k. Pediatr Res. 2008 Nov;64(5):538-43. doi: 10.1203/PDR.0b013e318184d2b5. Pediatr Res. 2008. PMID: 18614966

9

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: engelstad k. Curr Neurol Neurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Curr Neurol Neurosci Rep. 2013. PMID: 23443458 Review.

10

Long-term clinical course of Glut1 deficiency syndrome.

Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC. Alter AS, et al. Among authors: engelstad k. J Child Neurol. 2015 Feb;30(2):160-9. doi: 10.1177/0883073814531822. Epub 2014 Apr 30. J Child Neurol. 2015. PMID: 24789115

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