-
1
-
-
0031793497
-
Genetic disorders of membrane transport. I. Glucose galactose malabsorption
-
Wright EM (1998) Genetic disorders of membrane transport. I. Glucose galactose malabsorption. Am J Physiol Gastrointest Liver Physiol 275:G879-G882
-
(1998)
Am J Physiol Gastrointest Liver Physiol
, vol.275
, pp. G879-G882
-
-
Wright, E.M.1
-
2
-
-
0014703216
-
Glucose-galactose malabsorption: Studies on renal glucosuria
-
Meeuwisse GW (1970) Glucose-galactose malabsorption: studies on renal glucosuria. Helv Paediat Acta 25:13-24
-
(1970)
Helv Paediat Acta
, vol.25
, pp. 13-24
-
-
Meeuwisse, G.W.1
-
3
-
-
0842345516
-
Nephrolithiasis in a child with glucose-galactose malabsorption
-
Tasic V, Slaveska N, Blau N, Santer R (2004) Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol 19:244-246
-
(2004)
Pediatr Nephrol
, vol.19
, pp. 244-246
-
-
Tasic, V.1
Slaveska, N.2
Blau, N.3
Santer, R.4
-
4
-
-
0025891622
-
Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter
-
Turk E, Zabel B, Mundlos S et al. (1991) Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter. Nature 350:354-356
-
(1991)
Nature
, vol.350
, pp. 354-356
-
-
Turk, E.1
Zabel, B.2
Mundlos, S.3
-
6
-
-
0037223083
-
Intestinal glucose transport: Evidence for a membrane traffic-based pathway in humans
-
Santer R, Hillebrand G, Steinmann B, Schaub J (2003) Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. Gastroenterology 124:34-39
-
(2003)
Gastroenterology
, vol.124
, pp. 34-39
-
-
Santer, R.1
Hillebrand, G.2
Steinmann, B.3
Schaub, J.4
-
7
-
-
0030070055
-
Defects in Na(+)/glucose co transporter (SGLT1) trafficking and function cause glucose-galactose malabsorption
-
Martin MG, Turk E, Lostao MP et al. (1996) Defects in Na(+)/glucose co transporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 12:216-220
-
(1996)
Nat Genet
, vol.12
, pp. 216-220
-
-
Martin, M.G.1
Turk, E.2
Lostao, M.P.3
-
8
-
-
0344414255
-
Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters
-
Hediger MA, Turk E, Wright EM (1989) Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters. Proc Natl Acad Sci 86:5748-5752
-
(1989)
Proc Natl Acad Sci
, vol.86
, pp. 5748-5752
-
-
Hediger, M.A.1
Turk, E.2
Wright, E.M.3
-
9
-
-
0029927304
-
Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption
-
Martin MG, Turk E, Kerner C et al. (1996) Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption. Prenat Diagn 16:458-462
-
(1996)
Prenat Diagn
, vol.16
, pp. 458-462
-
-
Martin, M.G.1
Turk, E.2
Kerner, C.3
-
10
-
-
0015885273
-
Familial glucose-galactose malabsorption: Remission of glucose intolerance
-
Elsas LJ, Lambe DW (1973) Familial glucose-galactose malabsorption: remission of glucose intolerance. J Pediatr 83:226-232
-
(1973)
J Pediatr
, vol.83
, pp. 226-232
-
-
Elsas, L.J.1
Lambe, D.W.2
-
12
-
-
56749160374
-
Twenty-one additional cases of familial renal glucosuria: Absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion
-
Calado J, Sznajer Y, Metzger D et al. (2008) Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant 23:3874-3879
-
(2008)
Nephrol Dial Transplant
, vol.23
, pp. 3874-3879
-
-
Calado, J.1
Sznajer, Y.2
Metzger, D.3
-
13
-
-
4544284779
-
Long-term outcome of renal glucosuria type 0 – the original patient and his natural history
-
Scholl S, Santer R, Ehrich JHH (2004) Long-term outcome of renal glucosuria type 0 – the original patient and his natural history. Nephrol Dial Transplant 19:2394-2396
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 2394-2396
-
-
Scholl, S.1
Santer, R.2
Ehrich, J.3
-
14
-
-
0142180579
-
The molecular basis of renal glucosuria: Mutations in the gene for a renal glucose transporter (SGLT2)
-
Santer R, Kinner M, Schneppenheim R et al. (2000) The molecular basis of renal glucosuria: mutations in the gene for a renal glucose transporter (SGLT2). J Inherit Metab Dis 23 [Suppl 1]:178
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 178
-
-
Santer, R.1
Kinner, M.2
Schneppenheim, R.3
-
15
-
-
0026761361
-
Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter
-
Wells RG, Pajor AM, Kanai Y et al. (1992) Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. Am J Physiol 263:F459-465
-
(1992)
Am J Physiol
, vol.263
, pp. F459-F465
-
-
Wells, R.G.1
Pajor, A.M.2
Kanai, Y.3
-
16
-
-
10744229025
-
Molecular analysis of the SGLT2 gene in patients with renal glucosuria
-
Santer R, Kinner M, Lassen C et al. (2003) Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol 14:2873-2882
-
(2003)
J am Soc Nephrol
, vol.14
, pp. 2873-2882
-
-
Santer, R.1
Kinner, M.2
Lassen, C.3
-
18
-
-
77950286198
-
Glucose transporter- 1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
-
Leen WG, Klepper J, Verbeek MM et al. (2010) Glucose transporter- 1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655-670
-
(2010)
Brain
, vol.133
, pp. 655-670
-
-
Leen, W.G.1
Klepper, J.2
Verbeek, M.M.3
-
19
-
-
77649108153
-
The spectrum of movement disorders in Glut-1 deficiency
-
Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 25:275-281
-
(2010)
Mov Disord
, vol.25
, pp. 275-281
-
-
Pons, R.1
Collins, A.2
Rotstein, M.3
Engelstad, K.4
De Vivo, D.C.5
-
20
-
-
84956625254
-
Dystonic familial tremor caused by mutation in the glucose transporter 1 (GLUT1) gene
-
Roubergue A, Apartis E, Mesnage V et al. (2010) Dystonic familial tremor caused by mutation in the glucose transporter 1 (GLUT1) gene. J Inherit Metab Dis 33 [Suppl 1]:S67
-
(2010)
J Inherit Metab Dis
, vol.33
-
-
Roubergue, A.1
Apartis, E.2
Mesnage, V.3
-
21
-
-
0344825190
-
Reversible infantile hypoglycorrhachia: Possible transient disturbance in glucose transport?
-
Klepper J, De Vivo DC, Webb DW, Klinge L, Voit T (2003) Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport? Pediatr Neurol 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
-
22
-
-
73349111280
-
GLUT1 deficiency and alternating hemiplegia of childhood
-
Rotstein M, Doran J, Yang H et al. (2009) GLUT1 deficiency and alternating hemiplegia of childhood. Neurology 73:2042-2044
-
(2009)
Neurology
, vol.73
, pp. 2042-2044
-
-
Rotstein, M.1
Doran, J.2
Yang, H.3
-
23
-
-
69949186743
-
GLUT1 gene mutations cause sporadic paroxysmal exerciseinduced dyskinesias
-
Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I et al. (2009) GLUT1 gene mutations cause sporadic paroxysmal exerciseinduced dyskinesias. Mov Disord 24:1684-1688
-
(2009)
Mov Disord
, vol.24
, pp. 1684-1688
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Garcia-Gorostiaga, I.3
-
24
-
-
46849102968
-
Paroxysmal exerciseinduced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
Suls A, Dedeken P, Goffin K et al. (2008) Paroxysmal exerciseinduced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831-1844
-
(2008)
Brain
, vol.131
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
-
25
-
-
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. (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118:2157-2168
-
(2008)
J Clin Invest
, vol.118
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
-
26
-
-
34547624611
-
Supply and demand in cerebral energy metabolism: The role of nutrient transporters
-
Simpson IA, Carruthers A, Vannucci SJ (2007) Supply and demand in cerebral energy metabolism: the role of nutrient transporters. J Cereb Blood Flow Metab 27:1766-1791
-
(2007)
J Cereb Blood Flow Metab
, vol.27
, pp. 1766-1791
-
-
Simpson, I.A.1
Carruthers, A.2
Vannucci, S.J.3
-
27
-
-
69749121349
-
Murine Glut-1 transporter haploinsufficiency: Postnatal deceleration of brain weight and reactive astrocytosis
-
Ullner PM, Di Nardo A, Goldman JE et al. (2009) Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. Neurobiol Dis 36:60-69
-
(2009)
Neurobiol Dis
, vol.36
, pp. 60-69
-
-
Ullner, P.M.1
Di Nardo, A.2
Goldman, J.E.3
-
28
-
-
77953462287
-
Autosomal recessive inheritance of GLUT1 deficiency syndrome
-
Klepper J (2009) Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics 40:207-210
-
(2009)
Neuropediatrics
, vol.40
, pp. 207-210
-
-
Klepper, J.1
-
29
-
-
0035173740
-
Autosomal dominant transmission of GLUT1 deficiency
-
Klepper J, Willemsen M, Verrips A et al. (2001) Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 10:63-68
-
(2001)
Hum Mol Genet
, vol.10
, pp. 63-68
-
-
Klepper, J.1
Willemsen, M.2
Verrips, A.3
-
30
-
-
17344367164
-
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
-
Seidner G, Alvarez MG, Yeh JI et al. (1998) GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18:188-191
-
(1998)
Nat Genet
, vol.18
, pp. 188-191
-
-
Seidner, G.1
Alvarez, M.G.2
Yeh, J.I.3
-
31
-
-
0033850218
-
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
-
Wang D, Kranz-Eble P, De Vivo DC (2000) Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 16:224-231
-
(2000)
Hum Mutat
, vol.16
, pp. 224-231
-
-
Wang, D.1
Kranz-Eble, P.2
De Vivo, D.C.3
-
32
-
-
0037651879
-
Seizure characterization and electroencephalographic features in glut-1 deficiency syndrome
-
Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC (2003) Seizure characterization and electroencephalographic features in glut-1 deficiency syndrome. Epilepsia 44:701-707
-
(2003)
Epilepsia
, vol.44
, pp. 701-707
-
-
Leary, L.D.1
Wang, D.2
Nordli, D.R.3
Engelstad, K.4
De Vivo, D.C.5
-
33
-
-
0036791941
-
Imaging the metabolic footprint of Glut1 deficiency on the brain
-
Pascual JM, Heertum v RL, Wang D, Engelstad K, De Vivo DC (2002) Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol 52:458-464
-
(2002)
Ann Neurol
, vol.52
, pp. 458-464
-
-
Pascual, J.M.1
Heertum V, R.L.2
Wang, D.3
Engelstad, K.4
De Vivo, D.C.5
-
34
-
-
0032946375
-
Erythrocyte 3-O-methyl-d-glucose uptake assay for diagnosis of glucosetransporter- protein syndrome
-
Klepper J, Garcia-Alvarez M, O’Driscoll KR et al. (1999) Erythrocyte 3-O-methyl-d-glucose uptake assay for diagnosis of glucosetransporter- protein syndrome. J Clin Lab Anal 13:116-121
-
(1999)
J Clin Lab Anal
, vol.13
, pp. 116-121
-
-
Klepper, J.1
Garcia-Alvarez, M.2
O’Driscoll, K.R.3
-
35
-
-
39149090043
-
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
-
Ito S, Oguni H, Ito Y et al. (2008) Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. Brain Dev 30:226-228
-
(2008)
Brain Dev
, vol.30
, pp. 226-228
-
-
Ito, S.1
Oguni, H.2
Ito, Y.3
-
36
-
-
55349117504
-
Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
-
Klepper J (2008) Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49 [Suppl 8]:46-49
-
(2008)
Epilepsia
, vol.49
, pp. 46-49
-
-
Klepper, J.1
-
37
-
-
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. (2009) Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia 50:304-317
-
(2009)
Epilepsia
, vol.50
, pp. 304-317
-
-
Kossoff, E.H.1
Zupec-Kania, B.A.2
Amark, P.E.3
-
38
-
-
1842610160
-
Impaired glucose transport into the brain: The expanding spectrum of glucose transporter type 1 deficiency syndrome
-
Klepper J (2004) Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol 17:193-196
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 193-196
-
-
Klepper, J.1
-
39
-
-
27144454384
-
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively
-
Klepper J, Scheffer H, Leiendecker B et al. (2005) Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics 36:302-308
-
(2005)
Neuropediatrics
, vol.36
, pp. 302-308
-
-
Klepper, J.1
Scheffer, H.2
Leiendecker, B.3
-
40
-
-
27644531002
-
Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro
-
Wong HY, Chu TS, Lai JC et al. (2005) Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro. J Cell Biochem 96:775-785
-
(2005)
J Cell Biochem
, vol.96
, pp. 775-785
-
-
Wong, H.Y.1
Chu, T.S.2
Lai, J.C.3
-
41
-
-
0036088069
-
Fanconi-Bickel syndrome – a congenital defect of facilitative glucose transport
-
Santer R, Steinmann B, Schaub J (2002) Fanconi-Bickel syndrome – a congenital defect of facilitative glucose transport. Curr Mol Med 2:213-227
-
(2002)
Curr Mol Med
, vol.2
, pp. 213-227
-
-
Santer, R.1
Steinmann, B.2
Schaub, J.3
-
42
-
-
0031705401
-
Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
-
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (1998) Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 157:783-797
-
(1998)
Eur J Pediatr
, vol.157
, pp. 783-797
-
-
Santer, R.1
Schneppenheim, R.2
Suter, D.3
Schaub, J.4
Steinmann, B.5
-
43
-
-
0030750018
-
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia
-
Muller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. J Inherit Metab Dis 20:607-608
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 607-608
-
-
Muller, D.1
Santer, R.2
Krawinkel, M.3
Christiansen, B.4
Schaub, J.5
-
44
-
-
39049176219
-
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
-
Furlan F, Santer R, Vismara E et al. (2006) Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. J Inherit Metab Dis 29:685
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 685
-
-
Furlan, F.1
Santer, R.2
Vismara, E.3
-
45
-
-
0030667885
-
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
-
Santer R, Schneppenheim R, Dombrowski A et al. (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 17:324-326
-
(1997)
Nat Genet
, vol.17
, pp. 324-326
-
-
Santer, R.1
Schneppenheim, R.2
Dombrowski, A.3
-
46
-
-
48449098181
-
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome
-
Taha D, Al-Harbi N, Al-Sabban E (2008) Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. J Pediatr Endocrinol Metab 21:581-586
-
(2008)
J Pediatr Endocrinol Metab
, vol.21
, pp. 581-586
-
-
Taha, D.1
Al-Harbi, N.2
Al-Sabban, E.3
-
47
-
-
0036461262
-
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
-
Santer R, Groth S, Kinner M et al. (2002) The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet 110:21-29
-
(2002)
Hum Genet
, vol.110
, pp. 21-29
-
-
Santer, R.1
Groth, S.2
Kinner, M.3
-
48
-
-
0027155403
-
Organization of the human GLUT2 (Pancreatic β-cell and hepatocyte) glucose transporter gene
-
Takeda J, Kayano T, Fukomoto H, Bell GI (1993) Organization of the human GLUT2 (pancreatic β-cell and hepatocyte) glucose transporter gene. Diabetes 42:773-777
-
(1993)
Diabetes
, vol.42
, pp. 773-777
-
-
Takeda, J.1
Kayano, T.2
Fukomoto, H.3
Bell, G.I.4
-
49
-
-
37449033190
-
Elevated serum biotinidase activity in hepatic glycogen storage disorders – a convenient biomarker
-
Paesold-Burda P, Baumgartner MR, Santer R, Bosshard NU, Steinmann B (2007) Elevated serum biotinidase activity in hepatic glycogen storage disorders – a convenient biomarker. J Inherit Metab Dis 30:896-902
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 896-902
-
-
Paesold-Burda, P.1
Baumgartner, M.R.2
Santer, R.3
Bosshard, N.U.4
Steinmann, B.5
-
50
-
-
0029073815
-
Catch-up growth in Fanconi- Bickel syndrome with uncooked cornstarch
-
Lee PJ, van’t Hoff, Leonard JV (1995) Catch-up growth in Fanconi- Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis 18:153-156
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 153-156
-
-
Lee, P.J.1
Hoff, V.2
Leonard, J.V.3
-
51
-
-
33645381280
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
-
Coucke PJ, Willaert A, Wessels MW et al. (2006) Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 38:452-457
-
(2006)
Nat Genet
, vol.38
, pp. 452-457
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
-
52
-
-
38149069602
-
Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
-
Callewaert BL, Willaert A, Kerstjens-Frederikse WS et al. (2008) Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat 29:150-158
-
(2008)
Hum Mutat
, vol.29
, pp. 150-158
-
-
Callewaert, B.L.1
Willaert, A.2
Kerstjens-Frederikse, W.S.3
|