-
1
-
-
0016420661
-
Glutaric aciduria: A "new" disorder of amino acid metabolism
-
Goodman SI, Markey SP, Moe PG, et al. Glutaric aciduria: a "new" disorder of amino acid metabolism. Biochem Med 1975;12:12-21.
-
(1975)
Biochem Med
, vol.12
, pp. 12-21
-
-
Goodman, S.I.1
Markey, S.P.2
Moe, P.G.3
-
2
-
-
17744405461
-
Glutaric aciduria: A common metabolic disorder
-
Kyllerman M, Steen G. Glutaric aciduria: a common metabolic disorder. Arch Fr Pediatr 1980;37:279.
-
(1980)
Arch Fr Pediatr
, vol.37
, pp. 279
-
-
Kyllerman, M.1
Steen, G.2
-
3
-
-
0029908698
-
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: Impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish
-
Biery BJ, Stein BE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 1996;59:1006-1011.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1006-1011
-
-
Biery, B.J.1
Stein, B.E.2
Morton, D.H.3
Goodman, S.I.4
-
4
-
-
0026074570
-
Phenotypic variability in glutaric aciduria type. I: Report of fourteen cases in five Canadian Indian kindreds
-
Haworth JC, Booth FA, Chudley AE, et al. Phenotypic variability in glutaric aciduria type. I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991;118:52-58.
-
(1991)
J Pediatr
, vol.118
, pp. 52-58
-
-
Haworth, J.C.1
Booth, F.A.2
Chudley, A.E.3
-
5
-
-
0028953615
-
A G-to-T transversion at the +5 position of intron 1 in glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I
-
Greenberg CR, Reimer D, Singal R, et al. A G-to-T transversion at the +5 position of intron 1 in glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 1995;4:493-495.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 493-495
-
-
Greenberg, C.R.1
Reimer, D.2
Singal, R.3
-
6
-
-
0028239839
-
Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis
-
Greenberg CR, Duncan AM, Gregory CA, et al. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 1994;21:289-290.
-
(1994)
Genomics
, vol.21
, pp. 289-290
-
-
Greenberg, C.R.1
Duncan, A.M.2
Gregory, C.A.3
-
7
-
-
0029084073
-
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
-
Goodman SI, Kratz LE, DiGiulio KA, et al. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 1995;4:1493-1498.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1493-1498
-
-
Goodman, S.I.1
Kratz, L.E.2
DiGiulio, K.A.3
-
8
-
-
0027431219
-
3H-labelled glutaryl-CoA: Application in the genotyping of the glutaryl-CoA dehydrogenase locus
-
3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta 1993;220:71-80.
-
(1993)
Clin Chim Acta
, vol.220
, pp. 71-80
-
-
Christensen, E.1
-
9
-
-
0031880503
-
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
-
Goodman SI, Stein DE, Schlesinger S, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 1998;12:141-144.
-
(1998)
Hum Mutat
, vol.12
, pp. 141-144
-
-
Goodman, S.I.1
Stein, D.E.2
Schlesinger, S.3
-
10
-
-
0033875134
-
Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct
-
Busquets C, Merinero B, Christensen E, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 2000;48:315-322.
-
(2000)
Pediatr Res
, vol.48
, pp. 315-322
-
-
Busquets, C.1
Merinero, B.2
Christensen, E.3
-
12
-
-
0032585736
-
Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I
-
Baric I, Wagner L, Feyh P, et al. Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999;22:867-881.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 867-881
-
-
Baric, I.1
Wagner, L.2
Feyh, P.3
-
13
-
-
0035197204
-
Postnatal changes in neonatal acylcarnitne profile
-
Meyburg J, Schulze A, Kohlmüller D, et al. Postnatal changes in neonatal acylcarnitne profile. Pediatr Res 2001;49:125-129.
-
(2001)
Pediatr Res
, vol.49
, pp. 125-129
-
-
Meyburg, J.1
Schulze, A.2
Kohlmüller, D.3
-
14
-
-
0025719169
-
Glutaryl-CoA dehydrogenase deficiency: A distinct encephalopathy
-
Hoffmann GF, Trefz KH, Barth P, et al. Glutaryl-CoA dehydrogenase deficiency: a distinct encephalopathy. Pediatrics 1991;88:1194-1203.
-
(1991)
Pediatrics
, vol.88
, pp. 1194-1203
-
-
Hoffmann, G.F.1
Trefz, K.H.2
Barth, P.3
-
15
-
-
8944233364
-
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
-
Hoffmann GF, Athanassopoulos S, Burlina AB, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;]27:115-123.
-
(1996)
Neuropediatrics
, vol.27
, pp. 115-123
-
-
Hoffmann, G.F.1
Athanassopoulos, S.2
Burlina, A.B.3
-
16
-
-
0026316639
-
Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
-
Morton DH, Bennett MJ, Sergeant LE, et al. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Gen 1991;41:89-95.
-
(1991)
Am J Med Gen
, vol.41
, pp. 89-95
-
-
Morton, D.H.1
Bennett, M.J.2
Sergeant, L.E.3
-
17
-
-
0033730391
-
Age at symptom onset predicts severiry of motor impairment and clinical outcome of glutaric acidemia type I
-
Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severiry of motor impairment and clinical outcome of glutaric acidemia type I. J Pediatr 2000;137:681-686.
-
(2000)
J Pediatr
, vol.137
, pp. 681-686
-
-
Bjugstad, K.B.1
Goodman, S.I.2
Freed, C.R.3
-
18
-
-
0024386405
-
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I
-
Iafolla AK, Kahler SG. Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. J Pediatr 1989;114:1004-1006.
-
(1989)
J Pediatr
, vol.114
, pp. 1004-1006
-
-
Iafolla, A.K.1
Kahler, S.G.2
-
19
-
-
0025913785
-
Macrocephaly: An important indication for organic acid analysis
-
Hoffmann GF, Trefz KH, Barth P, et al. Macrocephaly: an important indication for organic acid analysis. J Inherit Metab Dis 1991;14:329-332.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 329-332
-
-
Hoffmann, G.F.1
Trefz, K.H.2
Barth, P.3
-
20
-
-
0023616609
-
Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features
-
Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology 1987;37:1654-1657.
-
(1987)
Neurology
, vol.37
, pp. 1654-1657
-
-
Amir, N.1
Elpeleg, O.N.2
Shalev, R.S.3
Christensen, E.4
-
21
-
-
0028964466
-
CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients
-
Brismar J, Ozand PT, CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 1995;16:675-683.
-
(1995)
Am J Neuroradiol
, vol.16
, pp. 675-683
-
-
Brismar, J.1
Ozand, P.T.2
-
22
-
-
0033011706
-
Glutaric aciduria type I: Ultrasonographic demonstration of early signs
-
Forstner R, Hoffmann GF, Gassner I, et al., Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999;29:138-143.
-
(1999)
Pediatr Radiol
, vol.29
, pp. 138-143
-
-
Forstner, R.1
Hoffmann, G.F.2
Gassner, I.3
-
23
-
-
0034120821
-
Prevention of cerebral palsy in glutaric aciduria type I by dietary management
-
Monavari AA, Naughten ER. Prevention of cerebral palsy in glutaric aciduria type I by dietary management. Arch Dis Child 2000;82:67-70.
-
(2000)
Arch Dis Child
, vol.82
, pp. 67-70
-
-
Monavari, A.A.1
Naughten, E.R.2
-
24
-
-
0035131250
-
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-CoA dehydrogenase gene
-
Kölker, S, Ramaekers VT, Zschocke J, Hoffmann GF. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-CoA dehydrogenase gene. J Pediatr 2001;138:277-279.
-
(2001)
J Pediatr
, vol.138
, pp. 277-279
-
-
Kölker, S.1
Ramaekers, V.T.2
Zschocke, J.3
Hoffmann, G.F.4
-
25
-
-
0037058757
-
Adult onset glutaric aciduria type I presenting with leukoencephalopathy
-
Bäht O, Mader I, Zschocke J, et al. Adult onset glutaric aciduria type I presenting with leukoencephalopathy, Neurology 2002;59:1802-1804.
-
(2002)
Neurology
, vol.59
, pp. 1802-1804
-
-
Bäht, O.1
Mader, I.2
Zschocke, J.3
-
26
-
-
0032809039
-
Glutau, I-Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria
-
Nyhan WL, Zschocke J, Hoffmann GF, et al. Glutau, I-Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab 1999;66:199-204.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 199-204
-
-
Nyhan, W.L.1
Zschocke, J.2
Hoffmann, G.F.3
-
27
-
-
0017251307
-
Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-hydroxyglutarate: Explanation of the symptoms in glutaric aciduria?
-
Stokke O, Goodman SI, Moe PG. Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta 1976;66:411-415.
-
(1976)
Clin Chim Acta
, vol.66
, pp. 411-415
-
-
Stokke, O.1
Goodman, S.I.2
Moe, P.G.3
-
28
-
-
0015712111
-
Amino acids as central nervous transmitters: The influence of ions, amino acid analogues, and ontogeny on transport systems for L-glutamic and L-aspartic acids and glycine into central nervous synaptosomes of the rat
-
Bennett JP, Logan WJ, Snyder SH. Amino acids as central nervous transmitters: the influence of ions, amino acid analogues, and ontogeny on transport systems for L-glutamic and L-aspartic acids and glycine into central nervous synaptosomes of the rat. J Neurochem 1973;21:1533-1550.
-
(1973)
J Neurochem
, vol.21
, pp. 1533-1550
-
-
Bennett, J.P.1
Logan, W.J.2
Snyder, S.H.3
-
29
-
-
0020702374
-
Quinolinic acid: An endogenous metabolite that produces axon-sparing lesions in rat brain
-
Schwarcz R, Whetsell WO, Mangano RM. Quinolinic acid: an endogenous metabolite that produces axon-sparing lesions in rat brain. Science 1983;219:316-318.
-
(1983)
Science
, vol.219
, pp. 316-318
-
-
Schwarcz, R.1
Whetsell, W.O.2
Mangano, R.M.3
-
30
-
-
0023253089
-
Hypothesis: A role for quinolinic acid in the neuropathology of glutaric aciduria type I
-
Heyes MP. Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type I. Can J Neurol Sci 1987;14:441-443.
-
(1987)
Can J Neurol Sci
, vol.14
, pp. 441-443
-
-
Heyes, M.P.1
-
31
-
-
0017356797
-
Glutaric aciduria: Biochemical and morphological considerations
-
Goodman SI, Norenberg MD, Shikes RH, et al. Glutaric aciduria: biochemical and morphological considerations. J Pediatr 1977;90:746-750.
-
(1977)
J Pediatr
, vol.90
, pp. 746-750
-
-
Goodman, S.I.1
Norenberg, M.D.2
Shikes, R.H.3
-
32
-
-
0019120250
-
Glutaric acidemia: A metabolic disorder causing progressive choreoathethosis
-
Leibel RL, Shih VE, Goodman SI, et al. Glutaric acidemia: a metabolic disorder causing progressive choreoathethosis. Neurology 1980;30:1163-1168.
-
(1980)
Neurology
, vol.30
, pp. 1163-1168
-
-
Leibel, R.L.1
Shih, V.E.2
Goodman, S.I.3
-
34
-
-
10744221860
-
Glutaryl-CoA dehydrogenase deficiency: Region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen
-
Kölker S, Schor DSM, Feyh P, et al. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 2003;34:253-260.
-
(2003)
Neuropediatrics
, vol.34
, pp. 253-260
-
-
Kölker, S.1
Schor, D.S.M.2
Feyh, P.3
-
35
-
-
0014937190
-
Brain damage in infant mice following oral intake of glutamate, aspartate or cysteine
-
Olney JW, Ho OL. Brain damage in infant mice following oral intake of glutamate, aspartate or cysteine. Nature 1970;227:609-610.
-
(1970)
Nature
, vol.227
, pp. 609-610
-
-
Olney, J.W.1
Ho, O.L.2
-
36
-
-
8544236222
-
Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I
-
Flott-Rahmel B, Falter C, Schluff P, et al. Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia I. J Inherit Metab Dis 1997;20:387-390.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 387-390
-
-
Flott-Rahmel, B.1
Falter, C.2
Schluff, P.3
-
37
-
-
0032969951
-
Glutaric aciduria type I: Pathomechanism of neurodegeneration
-
Ullrich K, Flott-Rahmel B, Schluff P, et al. Glutaric aciduria type I: pathomechanism of neurodegeneration. J Inherit Metab Dis 1999;22:392-403.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 392-403
-
-
Ullrich, K.1
Flott-Rahmel, B.2
Schluff, P.3
-
38
-
-
0035194446
-
IGF-1 and bFGF reduced glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures
-
Bjugstad KB, Zawada WM, Goodman SI, Freed CR. IGF-1 and bFGF reduced glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures. J Inherit Metab Dis 2001;24:631-647.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 631-647
-
-
Bjugstad, K.B.1
Zawada, W.M.2
Goodman, S.I.3
Freed, C.R.4
-
39
-
-
17444452676
-
3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro
-
KöIker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. 3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro. J Inherit Metab Dis 1999;22:259-262.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 259-262
-
-
KöIker, S.1
Ahlemeyer, B.2
Krieglstein, J.3
Hoffmann, G.F.4
-
40
-
-
0342424353
-
Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: A new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency
-
KöIker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2000;47:495-503.
-
(2000)
Pediatr Res
, vol.47
, pp. 495-503
-
-
KöIker, S.1
Ahlemeyer, B.2
Krieglstein, J.3
Hoffmann, G.F.4
-
41
-
-
0034960955
-
Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures
-
Kölker S, Ahlemeyer B, Hühne R, et al. Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures. Eur J Neurosci 2001;13:2115-2122.
-
(2001)
Eur J Neurosci
, vol.13
, pp. 2115-2122
-
-
Kölker, S.1
Ahlemeyer, B.2
Hühne, R.3
-
42
-
-
0034979803
-
Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons
-
Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 2001;50:76-82.
-
(2001)
Pediatr Res
, vol.50
, pp. 76-82
-
-
Kölker, S.1
Ahlemeyer, B.2
Krieglstein, J.3
Hoffmann, G.F.4
-
43
-
-
0035914179
-
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and excitotoxic lesions in rats
-
De Mello CF, Kölker S, Ahlemeyer B, et al. Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and excitotoxic lesions in rats. Brain Res 2001;916:70-75.
-
(2001)
Brain Res
, vol.916
, pp. 70-75
-
-
De Mello, C.F.1
Kölker, S.2
Ahlemeyer, B.3
-
44
-
-
0037093668
-
Chronic treatment with glutaric acid induces partial tolerance to excitotoxiciry in cultures from chick embryo telencephalon
-
Kölker S, Okun JG, Ahlemeyer B, et al. Chronic treatment with glutaric acid induces partial tolerance to excitotoxiciry in cultures from chick embryo telencephalon. J Neurosci Res 2002;68:424-431.
-
(2002)
J Neurosci Res
, vol.68
, pp. 424-431
-
-
Kölker, S.1
Okun, J.G.2
Ahlemeyer, B.3
-
45
-
-
0035992221
-
+ dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
-
+ dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 2002;52:199-206.
-
(2002)
Pediatr Res
, vol.52
, pp. 199-206
-
-
Kölker, S.1
Köhr, G.2
Ahlemeyer, B.3
-
46
-
-
0037195559
-
3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats
-
Latini A, Borba Rosa R, Scussiato K, et al. 3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats. Brain Res 2002;956:367-373.
-
(2002)
Brain Res
, vol.956
, pp. 367-373
-
-
Latini, A.1
Borba Rosa, R.2
Scussiato, K.3
-
47
-
-
0037458492
-
Glutaric acid induces oxidative stress in brain of young rats
-
De Oliveira Marques F, Hagen ME, Pederzolli CD, et al. Glutaric acid induces oxidative stress in brain of young rats. Brain Res 2003;964:153-158.
-
(2003)
Brain Res
, vol.964
, pp. 153-158
-
-
De Oliveira Marques, F.1
Hagen, M.E.2
Pederzolli, C.D.3
-
48
-
-
0345701486
-
Glutaric aciduria type I: Creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate
-
Das AM, Lücke T, Ullrich K. Glutaric aciduria type I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate. Mol Gen Metab 2003;78:108-111.
-
(2003)
Mol Gen Metab
, vol.78
, pp. 108-111
-
-
Das, A.M.1
Lücke, T.2
Ullrich, K.3
-
49
-
-
0029927787
-
Resistance to neurotoxicity in cortical cultures from neuronal nitric oxide synthase-deficient mice
-
Dawson VL, Kizushi VM, Huang PL, et al. Resistance to neurotoxicity in cortical cultures from neuronal nitric oxide synthase-deficient mice. J Neurosci 1996;16:2476-2487.
-
(1996)
J Neurosci
, vol.16
, pp. 2476-2487
-
-
Dawson, V.L.1
Kizushi, V.M.2
Huang, P.L.3
-
50
-
-
0027932457
-
Selective potentiation of NMDA-induced neuronal injury following induction of astrocytic iNOS
-
Hewett SJ, Csernansky CA, Choi DW. Selective potentiation of NMDA-induced neuronal injury following induction of astrocytic iNOS. Neuron 1994;13:487-494.
-
(1994)
Neuron
, vol.13
, pp. 487-494
-
-
Hewett, S.J.1
Csernansky, C.A.2
Choi, D.W.3
-
51
-
-
0343294341
-
Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-α
-
Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: fever and tumour necrosis factor-α. J Inherit Metab Dis 1999;23:359-362.
-
(1999)
J Inherit Metab Dis
, vol.23
, pp. 359-362
-
-
Kölker, S.1
Ahlemeyer, B.2
Krieglstein, J.3
Hoffmann, G.F.4
-
52
-
-
0029805172
-
Nitric oxide, superoxide, and peroxynitrite: The good, the bad, and ugly
-
Beckman JS, Koppenol WH. Nitric oxide, superoxide, and peroxynitrite: the good, the bad, and ugly. Am J Physiol 1996;271:C1427-C1437.
-
(1996)
Am J Physiol
, vol.271
-
-
Beckman, J.S.1
Koppenol, W.H.2
-
53
-
-
0344701091
-
Pharmacological evidence for GABAergic and glutamatergic involvement in the convulsant and behavioral effects of glutaric acid
-
Lima TTF, Begnini J, de Bastiani J, et al. Pharmacological evidence for GABAergic and glutamatergic involvement in the convulsant and behavioral effects of glutaric acid. Brain Res 1998;802:55-60.
-
(1998)
Brain Res
, vol.802
, pp. 55-60
-
-
Lima, T.T.F.1
Begnini, J.2
De Bastiani, J.3
-
54
-
-
0030840881
-
High affinity glutamate transporters: Regulation of expression and activity
-
Gegelashvili G, Shousboe A. High affinity glutamate transporters: regulation of expression and activity. Mol Pharmacol 1997;52:5-15.
-
(1997)
Mol Pharmacol
, vol.52
, pp. 5-15
-
-
Gegelashvili, G.1
Shousboe, A.2
-
55
-
-
0034651230
-
3H] glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro
-
3H] glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro. J Neurol Sci 2000;173:93-96.
-
(2000)
J Neurol Sci
, vol.173
, pp. 93-96
-
-
Porciuncula, L.O.1
Dal-Pizzol, A.2
Coitinho, A.S.3
-
56
-
-
0030033903
-
Characterization of agonist-induced downregulation of NMDA receptors in cerebellar granule cell cultures
-
Resink A, Villa M, Benke D, et al. Characterization of agonist-induced downregulation of NMDA receptors in cerebellar granule cell cultures. J Neurochem 1996;66:369-377.
-
(1996)
J Neurochem
, vol.66
, pp. 369-377
-
-
Resink, A.1
Villa, M.2
Benke, D.3
-
57
-
-
0032971724
-
Prolonged inhibition of glutamate reuptake downregulates NMDA receptor functions in cultured cerebellar granule cells
-
Cebers G, Cebere A, Wagner A, et al. Prolonged inhibition of glutamate reuptake downregulates NMDA receptor functions in cultured cerebellar granule cells. J Neurochem 1999;72:2181-2190.
-
(1999)
J Neurochem
, vol.72
, pp. 2181-2190
-
-
Cebers, G.1
Cebere, A.2
Wagner, A.3
-
58
-
-
0034082746
-
Analysis of the expression of murine glutaryl-CoA dehydrogenase: In vitro and in vivo studies
-
Woontner M, Crnic LS, Koeller DM. Analysis of the expression of murine glutaryl-CoA dehydrogenase: in vitro and in vivo studies. Mol Genet Metab 2000;69:116-122.
-
(2000)
Mol Genet Metab
, vol.69
, pp. 116-122
-
-
Woontner, M.1
Crnic, L.S.2
Koeller, D.M.3
-
59
-
-
0037084783
-
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I
-
Koeller DM, Woontner M, Crnic LS, et al. Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 2002;11:347-357.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 347-357
-
-
Koeller, D.M.1
Woontner, M.2
Crnic, L.S.3
-
60
-
-
0026544397
-
Striatal degeneration and spongy myelinopathy in glutaric acidemia
-
Soffer D, Amir N, Elpeleg ON, et al. Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neurol Sci 1992;107:199-204.
-
(1992)
J Neurol Sci
, vol.107
, pp. 199-204
-
-
Soffer, D.1
Amir, N.2
Elpeleg, O.N.3
-
61
-
-
0024297330
-
Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase
-
McMillan TA, Gibson KM, Sweetman L, et al. Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase. J Biol Chem 1988;263:17258-17261.
-
(1988)
J Biol Chem
, vol.263
, pp. 17258-17261
-
-
McMillan, T.A.1
Gibson, K.M.2
Sweetman, L.3
-
62
-
-
0042508736
-
Type I glutaric aciduria, part 1: Natural history of 77 patients
-
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet 2003;121C:38-52.
-
(2003)
Am J Med Genet
, vol.121 C
, pp. 38-52
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Robinson, D.L.3
Morton, D.H.4
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