-
1
-
-
0024235914
-
Glucose transporter of the blood-brain barrier and brain in chronic hyperglycemia
-
DOI 10.1111/j.1471-4159.1988.tb01180.x
-
Harik SI, Gravina SA, Kalaria RN,. Glucose transporter of the blood-brain barrier and brain in chronic hyperglycemia. J Neurochem 1988; 51: 1930-1934. (Pubitemid 19010986)
-
(1988)
Journal of Neurochemistry
, vol.51
, Issue.6
, pp. 1930-1934
-
-
Harik, S.I.1
Gravina, S.A.2
Kalaria, R.N.3
-
2
-
-
0025655654
-
Immunocytochemical localization of the erythroid glucose transporter: Abundance in tissues with barrier functions
-
Harik SI, Kalaria RN, Andersson L, et al. Immunocytochemical localization of the erythroid glucose transporter: abundance in tissues with barrier functions. J Neurosci 1990; 10: 3862-3872.
-
(1990)
J Neurosci
, vol.10
, pp. 3862-3872
-
-
Harik, S.I.1
Kalaria, R.N.2
Andersson, L.3
-
3
-
-
0025819954
-
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
-
De Vivo DC, Trifiletti RR, Jacobson RI, et al. 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
-
4
-
-
77649108153
-
The spectrum of movement disorders in Glut-1 deficiency
-
Pons R, Collins A, Rotstein M, et al. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 2010; 25: 275-281.
-
(2010)
Mov Disord
, vol.25
, pp. 275-281
-
-
Pons, R.1
Collins, A.2
Rotstein, M.3
-
5
-
-
73349111280
-
Glut1 deficiency and alternating hemiplegia of childhood
-
Rotstein M, Doran J, Yang H, et al. Glut1 deficiency and alternating hemiplegia of childhood. Neurology 2009; 73: 2042-2044.
-
(2009)
Neurology
, vol.73
, pp. 2042-2044
-
-
Rotstein, M.1
Doran, J.2
Yang, H.3
-
6
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
DOI 10.1093/brain/awn113
-
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. (Pubitemid 351957463)
-
(2008)
Brain
, vol.131
, Issue.7
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
Van Esch, H.4
Dupont, P.5
Cassiman, D.6
Kempfle, J.7
Wuttke, T.V.8
Weber, Y.9
Lerche, H.10
Afawi, Z.11
Vandenberghe, W.12
Korczyn, A.D.13
Berkovic, S.F.14
Ekstein, D.15
Kivity, S.16
Ryvlin, P.17
Claes, L.R.F.18
Deprez, L.19
Maljevic, S.20
Vargas, A.21
Van Dyck, T.22
Goossens, D.23
Del-Favero, J.24
Van Laere, K.25
De Jonghe, P.26
Van Paesschen, W.27
more..
-
7
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
-
DOI 10.1172/JCI34438
-
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. (Pubitemid 351872334)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.6
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
Brockmann, K.4
Kempfle, J.5
Maljevic, S.6
Margari, L.7
Kamm, C.8
Schneider, S.A.9
Huber, S.M.10
Pekrun, A.11
Roebling, R.12
Seebohm, G.13
Koka, S.14
Lang, C.15
Kraft, E.16
Blazevic, D.17
Salvo-Vargas, A.18
Fauler, M.19
Mottaghy, F.M.20
Munchau, A.21
Edwards, M.J.22
Presicci, A.23
Margari, F.24
Gasser, T.25
Lang, F.26
Bhatia, K.P.27
Lehmann-Horn, F.28
Lerche, H.29
more..
-
8
-
-
47549087612
-
Paroxysmal movement disorders in GLUT1 deficiency syndrome
-
Zorzi G, Castellotti B, Zibordi F, et al. 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
-
9
-
-
60749088698
-
Glut1 deficiency: CSF glucose. How low is too low?
-
De Vivo DC, Wang D,. Glut1 deficiency: CSF glucose. How low is too low? Rev Neurol (Paris) 2008; 164: 877-880.
-
(2008)
Rev Neurol (Paris)
, vol.164
, pp. 877-880
-
-
De Vivo, D.C.1
Wang, D.2
-
10
-
-
77951975749
-
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
-
Levy B, Wang D, Ullner P, et al. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol Genet Metab 2010; 100: 129-135.
-
(2010)
Mol Genet Metab
, vol.100
, pp. 129-135
-
-
Levy, B.1
Wang, D.2
Ullner, P.3
-
11
-
-
11144223212
-
Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects
-
DOI 10.1002/ana.20331
-
Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005; 57: 111-118. (Pubitemid 40053322)
-
(2005)
Annals of Neurology
, vol.57
, Issue.1
, pp. 111-118
-
-
Wang, D.1
Pascual, J.M.2
Yang, H.3
Engelstad, K.4
Jhung, S.5
Sun, R.P.6
De Vivo, D.C.7
-
12
-
-
78650879881
-
Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
-
Rotstein M, Engelstad K, Yang H, et al. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol 2010; 68: 955-958.
-
(2010)
Ann Neurol
, vol.68
, pp. 955-958
-
-
Rotstein, M.1
Engelstad, K.2
Yang, H.3
-
13
-
-
0029011145
-
Glucose transport protein deficiency: An emerging syndrome with therapeutic implications
-
De Vivo DC, Garcia-Alvarez M, Ronen GM,. Glucose transport protein deficiency: an emerging syndrome with therapeutic implications. Int Ped 1995; 10: 51-56.
-
(1995)
Int Ped
, vol.10
, pp. 51-56
-
-
De Vivo, D.C.1
Garcia-Alvarez, M.2
Ronen, G.M.3
-
14
-
-
0032946375
-
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose- transporter-protein syndrome
-
DOI 10.1002/(SICI)1098-2825(1999)13:3<116::AID-JCLA5>3.0.CO;2-C
-
Klepper J, Garcia-Alvarez M, O'Driscoll KR, et al. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. J Clin Lab Anal 1999; 13: 116-121. (Pubitemid 29207136)
-
(1999)
Journal of Clinical Laboratory Analysis
, vol.13
, Issue.3
, pp. 116-121
-
-
Klepper, J.1
Garcia-Alvarez, M.2
O'Driscoll, K.R.3
Parides, M.K.4
Wang, D.5
Ho, Y.Y.6
De Vivo, D.C.7
-
15
-
-
11144355448
-
Cerebral lactic acidosis correlates with neurological impairment in MELAS
-
Kaufmann P, Shungu DC, Sano MC, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004; 62: 1297-1302. (Pubitemid 38526040)
-
(2004)
Neurology
, vol.62
, Issue.8
, pp. 1297-1302
-
-
Kaufmann, P.1
Shungu, D.C.2
Sano, M.C.3
Jhung, S.4
Engelstad, K.5
Mitsis, E.6
Mao, X.7
Shanske, S.8
Hirano, M.9
DiMauro, S.10
De Vivo, D.C.11
-
17
-
-
0033850218
-
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
-
Wang D, Kranz-Eble P, De Vivo DC,. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 2000; 16: 224-231.
-
(2000)
Hum Mutat
, vol.16
, pp. 224-231
-
-
Wang, D.1
Kranz-Eble, P.2
De Vivo, D.C.3
-
18
-
-
55849126688
-
Functional studies of the T295M mutation causing Glut1 deficiency: Glucose efflux preferentially affected by T295M
-
Wang D, Yang H, Shi L, et al. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res 2008; 64: 538-543.
-
(2008)
Pediatr Res
, vol.64
, pp. 538-543
-
-
Wang, D.1
Yang, H.2
Shi, L.3
-
19
-
-
0030630218
-
CSF/blood glucose ratio and other prognostic indices in pyogenic meningitis
-
Javadekar BB, Vyas MD, Anand IS,. CSF/blood glucose ratio and other prognostic indices in pyogenic meningitis. J Indian Med Assoc 1997; 95: 9-11.
-
(1997)
J Indian Med Assoc
, vol.95
, pp. 9-11
-
-
Javadekar, B.B.1
Vyas, M.D.2
Anand, I.S.3
-
20
-
-
0037862949
-
Bacterial meningitis in children
-
DOI 10.1016/S0140-6736(03)13693-8
-
Saez-Llorens X, McCracken GH Jr,. Bacterial meningitis in children. Lancet 2003; 361: 2139-2148. (Pubitemid 36782263)
-
(2003)
Lancet
, vol.361
, Issue.9375
, pp. 2139-2148
-
-
Saez-Llorens, X.1
McCracken Jr., G.H.2
-
21
-
-
33746161578
-
Serum procalcitonin and other biologic markers to distinguish between bacterial and aseptic meningitis
-
DOI 10.1016/j.jpeds.2006.02.034, PII S0022347606001302
-
Dubos F, Moulin F, Gajdos V, et al. Serum procalcitonin and other biologic markers to distinguish between bacterial and aseptic meningitis. J Pediatr 2006; 149: 72-76. (Pubitemid 44081923)
-
(2006)
Journal of Pediatrics
, vol.149
, Issue.1
, pp. 72-76
-
-
Dubos, F.1
Moulin, F.2
Gajdos, V.3
De Suremain, N.4
Biscardi, S.5
Lebon, P.6
Raymond, J.7
Breart, G.8
Gendrel, D.9
Chalumeau, M.10
-
22
-
-
0023712245
-
Value of cerebrospinal fluid analysis in the differential diagnosis of meningitis: A study in 710 patients with suspected central nervous system infection
-
Lindquist L, Linne T, Hansson LO, et al. Value of cerebrospinal fluid analysis in the differential diagnosis of meningitis: a study in 710 patients with suspected central nervous system infection. Eur J Clin Microbiol Infect Dis 1988; 7: 374-380.
-
(1988)
Eur J Clin Microbiol Infect Dis
, vol.7
, pp. 374-380
-
-
Lindquist, L.1
Linne, T.2
Hansson, L.O.3
-
23
-
-
0017174708
-
Hypoglycorrhachia in pediatric patients
-
Silver TS, Todd JK,. Hypoglycorrhachia in pediatric patients. Pediatrics 1976; 58: 67-71.
-
(1976)
Pediatrics
, vol.58
, pp. 67-71
-
-
Silver, T.S.1
Todd, J.K.2
-
24
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-488. (Pubitemid 14021826)
-
(1984)
Annals of Neurology
, vol.16
, Issue.4
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
25
-
-
79952312663
-
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake
-
Fujii T, Morimoto M, Yoshioka H, et al. T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. Brain Dev 2010; 33: 316-320.
-
(2010)
Brain Dev
, vol.33
, pp. 316-320
-
-
Fujii, T.1
Morimoto, M.2
Yoshioka, H.3
-
26
-
-
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
-
27
-
-
77955363549
-
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
-
Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE,. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010; 75: 432-440.
-
(2010)
Neurology
, vol.75
, pp. 432-440
-
-
Mullen, S.A.1
Suls, A.2
De Jonghe, P.3
Berkovic, S.F.4
Scheffer, I.E.5
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