-
1
-
-
11144223212
-
Glut-1 deficiency syndrome: clinical, genetic and therapeutic aspects
-
Wang D., Pascual J.M., Yang H., Engelstad K., Jhung S., Sun R.P., et al. Glut-1 deficiency syndrome: clinical, genetic and therapeutic aspects. Ann Neurol 2005, 57:111-118.
-
(2005)
Ann Neurol
, vol.57
, pp. 111-118
-
-
Wang, D.1
Pascual, J.M.2
Yang, H.3
Engelstad, K.4
Jhung, S.5
Sun, R.P.6
-
2
-
-
0025819954
-
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures and developmental delay
-
De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures and developmental delay. N Engl J Med 1991, 325:703-709.
-
(1991)
N Engl J Med
, vol.325
, pp. 703-709
-
-
De Vivo, D.C.1
Trifiletti, R.R.2
Jacobson, R.I.3
Ronen, G.M.4
Behmand, R.A.5
Harik, S.I.6
-
4
-
-
0344825190
-
Reversible infantile hypoglicorrachia: possible transient disturbance in glucose transport?
-
Klepper J., De Vivo D.C., Webb D.W., Klinge L., Voit T. Reversible infantile hypoglicorrachia: possible transient disturbance in glucose transport?. Pediatr Neurol 2003, 29:321-325.
-
(2003)
Pediatr Neurol
, vol.29
, pp. 321-325
-
-
Klepper, J.1
De Vivo, D.C.2
Webb, D.W.3
Klinge, L.4
Voit, T.5
-
5
-
-
1842610160
-
Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome
-
Klepper J. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol 2004, 17:193-196.
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 193-196
-
-
Klepper, J.1
-
6
-
-
0142182124
-
GLUT1 deficiency without epilepsy - an exceptional case
-
Overweg-Plandsoen W.C., Groener J.E.M., Wang D., Onkenhout W., Brouwer O.F., Bakker H.D., et al. GLUT1 deficiency without epilepsy - an exceptional case. J Inherit Metab Dis 2003, 26:559-563.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 559-563
-
-
Overweg-Plandsoen, W.C.1
Groener, J.E.M.2
Wang, D.3
Onkenhout, W.4
Brouwer, O.F.5
Bakker, H.D.6
-
7
-
-
33644964897
-
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
-
Friedman J.R., Thiele E.A., Wang D., Levine K.B., Cloherty E.K., Pfeifer H.H., et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 2006, 21:241-245.
-
(2006)
Mov Disord
, vol.21
, pp. 241-245
-
-
Friedman, J.R.1
Thiele, E.A.2
Wang, D.3
Levine, K.B.4
Cloherty, E.K.5
Pfeifer, H.H.6
-
8
-
-
0036261454
-
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain - a review
-
Klepper J., Voit T. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain - a review. Eur J Pediatr 2002, 161:295-304.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 295-304
-
-
Klepper, J.1
Voit, T.2
-
9
-
-
1042265013
-
Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
-
Klepper J., Diefenbach S., Kohlschutter A., Voit T. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids 2004, 70:321-327.
-
(2004)
Prostaglandins Leukot Essent Fatty Acids
, vol.70
, pp. 321-327
-
-
Klepper, J.1
Diefenbach, S.2
Kohlschutter, A.3
Voit, T.4
-
10
-
-
58849155005
-
Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group. The Charlie Foundation, and the Practice Committee of the Child Neurology Society
-
Kossoff E.H., Zupec-Kania B.A., Amark P.E., Ballaban-Gil K.R., Bergqvist A.G., Blackford R., et al. Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group. The Charlie Foundation, and the Practice Committee of the Child Neurology Society. Epilepsia 2009, 50:304-317.
-
(2009)
Epilepsia
, vol.50
, pp. 304-317
-
-
Kossoff, E.H.1
Zupec-Kania, B.A.2
Amark, P.E.3
Ballaban-Gil, K.R.4
Bergqvist, A.G.5
Blackford, R.6
-
12
-
-
47549087612
-
Paroxysmal movement disorders in GLUT1 deficiency syndrome
-
Zorzi G., Castellotti B., Zibordi F., Gellera C., Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology 2008, 71:311-317.
-
(2008)
Neurology
, vol.71
, pp. 311-317
-
-
Zorzi, G.1
Castellotti, B.2
Zibordi, F.3
Gellera, C.4
Nardocci, N.5
-
13
-
-
18044384815
-
Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
-
Ito Y., Oguni H., Nakayama T., Matsuo M., Funatsuka M., Voit T., et al. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan. Brain Dev 2005, 27:311-317.
-
(2005)
Brain Dev
, vol.27
, pp. 311-317
-
-
Ito, Y.1
Oguni, H.2
Nakayama, T.3
Matsuo, M.4
Funatsuka, M.5
Voit, T.6
-
14
-
-
33745801174
-
A pilot study of a ketogenic diet in patients with Lafora body disease
-
Cardinali S., Canafoglia L., Bertoli S., Franceschetti S., Lanzi G., Tagliabue A., et al. A pilot study of a ketogenic diet in patients with Lafora body disease. Epilepsy Res 2006, 69:129-134.
-
(2006)
Epilepsy Res
, vol.69
, pp. 129-134
-
-
Cardinali, S.1
Canafoglia, L.2
Bertoli, S.3
Franceschetti, S.4
Lanzi, G.5
Tagliabue, A.6
-
15
-
-
0036340248
-
EEG features of GLUT-1 deficiency syndrome
-
Von Moers A., Brockman K., Wang D., Korenke C.G., Huppke P., De Vivo D.C., et al. EEG features of GLUT-1 deficiency syndrome. Epilepsia 2002, 43:941-945.
-
(2002)
Epilepsia
, vol.43
, pp. 941-945
-
-
Von Moers, A.1
Brockman, K.2
Wang, D.3
Korenke, C.G.4
Huppke, P.5
De Vivo, D.C.6
-
16
-
-
33846546103
-
Three Japanese patients with glucose transporter type 1 deficiency syndrome
-
Fujii T., Ho Y.Y., Wang D., De Vivo D.C., Miyajima T., Wong H.Y., et al. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev 2007, 29:92-97.
-
(2007)
Brain Dev
, vol.29
, pp. 92-97
-
-
Fujii, T.1
Ho, Y.Y.2
Wang, D.3
De Vivo, D.C.4
Miyajima, T.5
Wong, H.Y.6
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