-
1
-
-
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;71:146-148.
-
(2008)
Neurology
, vol.71
, pp. 146-148
-
-
Zorzi, G.1
Castellotti, B.2
Zibordi, F.3
Gellera, C.4
Nardocci, N.5
-
2
-
-
77950286198
-
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
-
Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010;133:655-670.
-
(2010)
Brain
, vol.133
, pp. 655-670
-
-
Leen, W.G.1
Klepper, J.2
Verbeek, M.M.3
-
3
-
-
80054888031
-
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
-
Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77:959-964.
-
(2011)
Neurology
, vol.77
, pp. 959-964
-
-
Weber, Y.G.1
Kamm, C.2
Suls, A.3
-
4
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
-
Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118:2157-2168.
-
(2008)
J Clin Invest
, vol.118
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
-
5
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131:1831-1844.
-
(2008)
Brain
, vol.131
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
-
6
-
-
69949186743
-
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
-
Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009;24:1684-1688.
-
(2009)
Mov Disord
, vol.24
, pp. 1684-1688
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Garcia-Gorostiaga, I.3
-
7
-
-
78649995113
-
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency
-
Afawi Z, Suls A, Ekstein D, et al. Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia 2010;51:2466-2469.
-
(2010)
Epilepsia
, vol.51
, pp. 2466-2469
-
-
Afawi, Z.1
Suls, A.2
Ekstein, D.3
-
8
-
-
79955693896
-
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
-
Roubergue A, Apartis E, Mesnage V, et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis 2011;34:483-488.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 483-488
-
-
Roubergue, A.1
Apartis, E.2
Mesnage, V.3
-
9
-
-
33644964897
-
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
-
Friedman JR, Thiele EA, Wang D, 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
-
10
-
-
55349117504
-
Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
-
Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 2008;49(suppl 8):46-49.
-
(2008)
Epilepsia
, vol.49
, Issue.SUPPL. 8
, pp. 46-49
-
-
Klepper, J.1
-
11
-
-
79958270337
-
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome
-
Ito Y, Oguni H, Ito S, Oguni M, Osawa M. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol 2011;53:658-663.
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 658-663
-
-
Ito, Y.1
Oguni, H.2
Ito, S.3
Oguni, M.4
Osawa, M.5
-
12
-
-
39149090043
-
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
-
Ito S, Oguni H, Ito Y, Ishigaki K, Ohinata J, Osawa M. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. Brain Dev 2008;30:226-228.
-
(2008)
Brain Dev
, vol.30
, pp. 226-228
-
-
Ito, S.1
Oguni, H.2
Ito, Y.3
Ishigaki, K.4
Ohinata, J.5
Osawa, M.6
-
13
-
-
84864655445
-
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice [serial online]
-
Leen WG, Willemsen MA, Wevers RA, Verbeek MM. Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice [serial online]. PLoS One 2012;7:e42745.
-
(2012)
PLoS One
, vol.7
-
-
Leen, W.G.1
Willemsen, M.A.2
Wevers, R.A.3
Verbeek, M.M.4
-
14
-
-
58849155005
-
Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group
-
Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. 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
-
15
-
-
84862763884
-
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood
-
Gramer G, Wolf NI, Vater D, et al. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood. Neuropediatrics 2012;43:168-171.
-
(2012)
Neuropediatrics
, vol.43
, pp. 168-171
-
-
Gramer, G.1
Wolf, N.I.2
Vater, D.3
-
16
-
-
0034780656
-
Prenatal diagnosis of disorders of energy metabolism
-
Robinson BH. Prenatal diagnosis of disorders of energy metabolism. Semin Neurol 2001;21:269-273.
-
(2001)
Semin Neurol
, vol.21
, pp. 269-273
-
-
Robinson, B.H.1
-
17
-
-
0028805935
-
The ketogenic diet: Fa(c)t or fiction
-
Wheless JW. The ketogenic diet: Fa(c)t or fiction. J Child Neurol 1995;10:419-423.
-
(1995)
J Child Neurol
, vol.10
, pp. 419-423
-
-
Wheless, J.W.1
-
18
-
-
84861319459
-
Long-term follow-up of children treated with the modified Atkins diet
-
Chen W, Kossoff EH. Long-term follow-up of children treated with the modified Atkins diet. J Child Neurol 2012;27:754-758.
-
(2012)
J Child Neurol
, vol.27
, pp. 754-758
-
-
Chen, W.1
Kossoff, E.H.2
-
19
-
-
84864102232
-
GLUT1 deficiency syndrome in clinical practice
-
Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res 2011;100:272-277.
-
(2011)
Epilepsy Res
, vol.100
, pp. 272-277
-
-
Klepper, J.1
|