3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro (English)
- New search for: Koelker, S.
- New search for: Ahlemeyer, B.
- New search for: Krieglstein, J.
- New search for: Hoffmann, G. F.
- New search for: Koelker, S.
- New search for: Ahlemeyer, B.
- New search for: Krieglstein, J.
- New search for: Hoffmann, G. F.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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22
, 3
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259-262
;
1999
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ISSN:
- Article (Journal) / Print
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Title:3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro
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Contributors:Koelker, S. ( author ) / Ahlemeyer, B. ( author ) / Krieglstein, J. ( author ) / Hoffmann, G. F. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 22, 3 ; 259-262
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Publisher:
- New search for: KLUWER ACADEMIC PUB
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Publication date:1999-01-01
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Size:4 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 22, Issue 3
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 208
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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuriaWaters, P. J. / Parniak, M. A. / Akerman, B. R. / Jones, A. O. / Scriver, C. R. et al. | 1999
- 213
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Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa‐responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiencyHyland, K. / Nygaard, T. G. / Trugman, J. M. / Swoboda, K. J. / Arnold, L. A. / Sparagana, S. P. et al. | 1999
- 216
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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loadingBlau, N. / Thöny, B. / Renneberg, A. / Penzien, J. M. / Hyland, K. / Hoffmann, G. F. et al. | 1999
- 221
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Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentrationHeales, S. J. R. / Canevari, L. / Brand, M. P. / Clark, J. B. / Land, J. M. / Hyland, K. et al. | 1999
- 224
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Pyroglutamic aciduria and nephropathic cystinosisRizzo, C. / Ribes, A. / Pastore, A. / Dionisi‐Vici, C. / Greco, M. / Rizzoni, G. / Federici, G. et al. | 1999
- 227
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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatmentDepetris‐Boldini, C. / Galetto, R. / Videla, M. P. / de Kremer Dodelson, R. et al. | 1999
- 227
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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes wtih NTBC treatmentDepetris-Boldini, C. / Galetto, R. / Videla, M. P. / De Kremer Dodelson, R. et al. | 1999
- 231
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Cystinylglycinuria: A new neurometabolic disorder?Bellet, H. / Rejou, F. / Vallat, C. / Mion, H. / Dimeglio, A. et al. | 1999
- 235
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Reduced glutathione, γ‐glutamylcysteine, cysteine and γ‐glutamylglutamine in γ‐glutamyltransferase deficiencyHammond, J. W. / Potter, M. / Sim, K. G. / Wilcken, B. et al. | 1999
- 240
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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiencyAbeling, N. G. G. M. / van Gennip, A. H. / Blom, H. / Wevers, R. A. / Vreken, P. / van Tinteren, H. L. G. / Bakker, H. D. et al. | 1999
- 243
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Decreased circulating plasma lipids in patients with homocystinuriaMoat, S. J. / Bonham, J. R. / Allen, J. C. / Powers, H. J. / McDowell, I. F. W. et al. | 1999
- 247
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Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolismCerone, R. / Schiaffino, M. C. / Caruso, U. / Lupino, S. / Gatti, R. et al. | 1999
- 251
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What is the origin of 3‐methylglutaconic acid?Walsh, R. / Conway, H. / Roche, G. / Mayne, P. D. et al. | 1999
- 256
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Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild‐type and mutant cDNA encoding human glutaryl‐CoA dehydrogenaseLiesert, M. / Zschocke, J. / Hoffmann, G. F. / Mühlhäuser, N. / Buckel, W. et al. | 1999
- 259
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3‐Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitroKölker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
- 263
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Prenatal diagnosis of Canavan disease — Problems and dilemmasBesley, G. T. N. / Elpeleg, O. N. / Shaag, A. / Manning, N. J. / Jakobs, C. / Walter, J. H. et al. | 1999
- 267
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Identification of the molecular defect in a severe case of carnitine‐acylcarnitine carrier deficiencyCosta, C. / Costa, J. M. / Nuoffer, J. M. / Slama, A. / Boutron, A. / Saudubray, J. M. / Legrand, A. / Brivet, M. et al. | 1999
- 271
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Carnitine‐acylcarnitine translocase deficiency is a treatable diseaseAl Aqeel, A. I. / Rashed, M. S. / Wanders, R. J. A. et al. | 1999
- 276
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Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiencyHarding, C. O. / Gillingham, M. B. / van Calcar, S. C. / Wolff, J. A. / Verhoeve, J. N. / Mills, M. D. et al. | 1999
- 276
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Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHarding, C. O. / Gillingham, M. B. / Van Calcar, S. C. / Wolff, J. A. / Verhoeve, J. N. / Mills, M. D. et al. | 1999
- 281
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DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA dehydrogenase deficiencyAndresen, B. S. / Olpin, S. / Kvittingen, E. A. / Augoustides‐Savvopoulou, P. / Lindhout, D. / Halley, D. J. J. / Vianey‐Saban, C. / Wanders, R. J. A. / IJlst, L. / Schroeder, L. D. et al. | 1999
- 286
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Determination of total fatty acids in plasma: cis‐5‐Tetradecenoic acid (C14:1ω‐9) in the diagnosis of long‐chain fatty acid oxidation defectsDivry, P. / Vianey‐Saban, C. / Mathieu, M. et al. | 1999
- 286
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Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C~1~4~:~1 omega-9) in the diagnosis of long-chain fatty acid oxidation defectsDivry, P. / Vianey-Saban, C. / Mathieu, M. et al. | 1999
- 289
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Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysisDowning, M. / Allen, J. C. / Bonham, J. R. / Edwards, R. G. / Manning, N. J. / Olpin, S. E. / Pollitt, R. J. et al. | 1999
- 293
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Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acids analysis by GC-MSVan Landeghem, A. A. J. / Somers-Pijnenburg, Y. T. J. / Somers, W. J. H. M. / Stokwielder, C. / De Bruyn, W. / Van Den Berg, G. B. et al. | 1999
- 293
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Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC‐MSvan Landeghem, A. A. J. / Somers‐Pijnenburg, Y. T. J. / Somers, W. J. H. M. / Stokwielder, C. / de Bruyn, W. / van den Berg, G. B. et al. | 1999
- 297
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Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urineBamforth, F. J. / Dorian, V. / Vallance, H. / Wishart, D. S. et al. | 1999
- 302
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Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defectsVreken, P. / van Lint, A. E. M. / Bootsma, A. H. / Overmars, H. / Wanders, R. J. A. / van Gennip, A. H. et al. | 1999
- 307
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Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disordersBootsma, A. H. / Overmars, H. / van Rooij, A. / van Lint, A. E. M. / Wanders, R. J. A. / van Gennip, A. H. / Vreken, P. et al. | 1999
- 307
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Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spetrometry: Application for selective screening of peroxisomal disordersBootsma, A. H. / Overmars, H. / Van Rooij, A. / Van Lint, A. E. M. / Wanders, R. J. A. / Van Gennip, A. H. / Vreken, P. et al. | 1999
- 311
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Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotypeGärtner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
- 311
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Mutations in PEX1 in peroxisome biogenesis dosorders: G843D and a mild clinical phenotypeGaertner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
- 314
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Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)Wanders, R. J. A. / Mooijer, P. A. W. / Dekker, C. / Suzuki, Y. / Shimozawa, N. et al. | 1999
- 319
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Molecular basis of Sjoegren - Larsson syndrome: Frequency of the 1297-1298 del GA and 943C -> T mutation in 29 patientsIjlst, L. / Oostheim, W. / Van Werkhoven, M. / Willemsen, M. A. A. P. / Wanders, R. J. A. et al. | 1999
- 319
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Molecular basis of Sjögren‐Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patientsIJlst, L. / Oostheim, W. / van Werkhoven, M. / Willemsen, M. A. A. P. / Wanders, R. J. A. et al. | 1999
- 322
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Molecular study of spinal muscular atrophy patients with hybrid genes in BulgariaKremensky, I. / Jankova, S. / Bochukova, E. / Uzunova, M. / Litvinenko, I. / Jordanova, A. et al. | 1999
- 327
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Molecular and biochemical basis for variants and deficiency forms of galactose‐1‐phosphate uridyltransferaseShin, Y. S. / Zschocke, J. / Das, A. M. / Podskarbi, T. et al. | 1999
- 330
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Glycogen storage disease type IV presenting as hydrops fetalisAlegria, A. / Martins, E. / Dias, M. / Cunha, A. / Cardoso, M. L. / Maire, I. et al. | 1999