Results 191 to 200 of about 17,667 (261)

Modulation of glutamatergic and GABAergic neurotransmission in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Although the precise mechanisms underlying the CNS degeneration of patients with glutaryl‐CoA dehydrogenase (GCDH) deficiency are still the subject of intense debate, many studies have highlighted that excitotoxicity plays a fundamental role in the neuropathology of this disease, particularly involving the N‐methyl‐D‐aspartate receptor
C. F. de Mello, Georg F. Hoffmann, Diogo O. Souza, Stefan Kölker, Moacir Wajner   +4 more
semanticscholar   +5 more sources

Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency [PDF]

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: We have investigated the correlation between genotype and phenotype in a large number of patients with glutaric aciduria type I (GA I). The deficiency of glutaryl‐CoA dehydrogenase has been confirmed in the Rigshospitalet's laboratory in 215 patients since 1975. Most of the patients were of European ancestry. Complete absence of enzyme
Antonia Ribes, Begoña Merinero, Johannes Zschocke, Ernst Christensen   +3 more
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Neonatal screening for glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Acute encephalopathic crisis in glutaryl‐CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death.
Andreas Schulze, Stefan Kölker, Cheryl R. Greenberg, Ernst Christensen, Martin Lindner, Georg F. Hoffmann   +5 more
openaire   +4 more sources

Pathomechanisms of neurodegeneration in glutaryl‐CoA dehydrogenase deficiency

Annals of Neurology, 2003
AbstractGlutaryl‐CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly neurological presentation. Biochemically, it is characterized by an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3‐hydroxyglutaric acid.
Jürgen G. Okun, David M. Koeller, Georg F. Hoffmann, Stefan Kölker   +3 more
openaire   +4 more sources

Crystal Structures of Human Glutaryl-CoA Dehydrogenase with and without an Alternate Substrate:  Structural Bases of Dehydrogenation and Decarboxylation Reactions†,‡

Biochemistry, 2004
Acyl-CoA dehydrogenases (ACDs) are a family of flavoenzymes that metabolize fatty acids and some amino acids. Of nine known ACDs, glutaryl-CoA dehydrogenase (GCD) is unique: in addition to the alpha,beta-dehydrogenation reaction, common to all ACDs, GCD ...
Kwang Seok Ahn
exaly   +2 more sources

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

Neuropediatrics, 1996
Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein or lysine-restricted diet have been ...
Hoffmann GF, Athanassopoulos S, BURLINA A, Duran M, De Klerk JBC, Lehnerf W, Leonard JV, Monavari AA, M??ller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E   +14 more
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Excitotoxicity and bioenergetics in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Glutaryl‐CoA dehydrogenase deficiency is an inherited organic acid disorder with predominantly neurological presentation. The biochemical hallmark of this disease is an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3‐hydroxyglutaric acid.
David M. Koeller, Kurt Ullrich, Marina A. Schwab, Stefan Kölker, Sven W. Sauer, Jürgen G. Okun, Friederike Hörster, Georg F. Hoffmann   +7 more
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Maintenance treatment of glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl‐CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl‐CoA dehydrogenase (GCDH) deficiency.
E. R. Naughten, Cheryl R. Greenberg, Stefan Kölker, K. A. Strauss, Jürgen G. Okun, Georg F. Hoffmann, Chris Mühlhausen, Kurt Ullrich   +7 more
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Neuroradiological findings in glutaric aciduria type I (glutaryl‐CoA dehydrogenase deficiency)

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl‐CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I.
Eva Neumaier-Probst, Stefan Kölker, Angelika Seitz, C. Ding, Inga Harting   +4 more
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Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Nuclear magnetic resonance (NMR) spectroscopy is a safe, noninvasive method that is the preferred technique for in vivo analysis of specific chemical compounds in localized brain regions. Besides quantification of compounds, NMR spectroscopy allows the detailed analysis of neurotransmitter, glucose and lactate metabolism following ...
S. Stöckler-Ipsiroglu, Olaf Bodamer, Staci A. Gruber   +2 more
openaire   +4 more sources