Results 151 to 160 of about 5,767 (207)

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1. [PDF]

J Med Chem
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau AC, Delgado A, Garcia-Collazo AM, Martinell M, Barril X, Cubero E, Gersting SW.   +11 more
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]

Orphanet J Rare Dis
Parvini F, Ajam-Hosseini M, Shadpour M.
europepmc   +1 more source

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study. [PDF]

Sci Rep
Lin Y, Lin C, Zheng Z, Chen Y, Zheng F, Lin W.   +5 more
europepmc   +1 more source

Nuclear functional role of metabolic enzymes and related metabolites: Focus on gene expression regulation. [PDF]

Mol Metab
Todisco S, Iacobazzi D, Santarsiero A, Convertini P, Infantino V.   +4 more
europepmc   +1 more source

Acyl post-translational modification of proteins by metabolites in cancer cells. [PDF]

Cell Death Discov
Wang X, Guo Y, Fu Y, Zhang C, Chen W, Tang X, Yu Y, Chen Y, Ding G, Zhang J.   +9 more
europepmc   +1 more source

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Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

Molecular Genetics and Metabolism, 2006
We report here riboflavin responsiveness in a patient with glutaryl CoA dehydrogenase (GCDH) deficiency, compound heterozygous for the S139L and P248L mutations and with 20% residual GCDH enzyme activity in vitro. Our results suggest the mitochondrial GCDH homotetramer remains intact with one of these mutations associated with the binding site of the ...
Ronald A, Chalmers, Murray D, Bain, Johannes, Zschocke   +2 more
openaire   +4 more sources

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: Application in the genotyping of the glutaryl-CoA dehydrogenase locus

Clinica Chimica Acta, 1993
A method described earlier for measuring glutaryl-CoA dehydrogenase activity in fibroblasts has been further developed. This assay uses the detritiation of [2,3,4-3H]glutaryl-CoA both with and without added artificial electron acceptors as a measure of glutaryl-CoA dehydrogenase activity.
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Glutaryl-CoA Dehydrogenase Deficiency Presenting as 3-Hydroxyglutaric Aciduria

Molecular Genetics and Metabolism, 1999
Two siblings who were found to have deficiency of glutaryl-CoA dehydrogenase were identified by the presence of large amounts of 3-hydroxyglutaric acid in the urine. Patients with this disease, termed glutaric acidemia or glutaric acidemia Type I, usually present with large amounts of glutaric acid in the urine, and amounts of 3-hydroxyglutaric acid ...
W L, Nyhan, J, Zschocke, G, Hoffmann, D E, Stein, L, Bao, S, Goodman   +5 more
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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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