Isovaleric acidemia: a new genetic defect of leucine metabolism
about
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementStructures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenasesMolecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemiaThe scent of disease: volatile organic compounds of the human body related to disease and disorderCharacterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningL-carnitine therapy in isovaleric acidemiaMulti-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiencyDemonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemiaEbstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.Effect of chain length of short-chain fatty acids on their effect on intracranial pressure in rabbits.Qualitative and quantitative study of the highly specialized lipid tissues of cetaceans using HR-MAS NMR and classical GC.Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme familyOxidation of leucine and alpha-ketoisocaproate to beta-hydroxy-beta-methylbutyrate in vivo.Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligandsMethylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis.Family with intermittent maple syrup urine disease.Urinary organic acids quantitated in a healthy north Indian pediatric populationMetabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects[New etiologic approach to periodic ketoacidosis in children]Isovaleryl-CoA dehydrogenase: demonstration in rat liver mitochondria by ion exchange chromatography and isoelectric focusingIsovaleric acidemia: new aspects of genetic and phenotypic heterogeneityAtypical MR lenticular signal change in infantile isovaleric acidemiaNewborn screening: After the thrill is gone.Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.Organic acidurias: a review. Part 1.Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase.Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.Dietary practices in isovaleric acidemia: A European survey.Computational strategies for metabolite identification in metabolomics.Accelerating analysis for metabolomics, drugs and their metabolites in biological samples using multidimensional gas chromatography.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.A new perspective on the importance of glycine conjugation in the metabolism of aromatic acids.Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.Enzymes involved in branched-chain amino acid metabolism in humans.An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.
P2860
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P2860
Isovaleric acidemia: a new genetic defect of leucine metabolism
description
1966 nî lūn-bûn
@nan
1966 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1966 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1966年の論文
@ja
1966年論文
@yue
1966年論文
@zh-hant
1966年論文
@zh-hk
1966年論文
@zh-mo
1966年論文
@zh-tw
1966年论文
@wuu
name
Isovaleric acidemia: a new genetic defect of leucine metabolism
@ast
Isovaleric acidemia: a new genetic defect of leucine metabolism
@en
Isovaleric acidemia: a new genetic defect of leucine metabolism
@nl
type
label
Isovaleric acidemia: a new genetic defect of leucine metabolism
@ast
Isovaleric acidemia: a new genetic defect of leucine metabolism
@en
Isovaleric acidemia: a new genetic defect of leucine metabolism
@nl
prefLabel
Isovaleric acidemia: a new genetic defect of leucine metabolism
@ast
Isovaleric acidemia: a new genetic defect of leucine metabolism
@en
Isovaleric acidemia: a new genetic defect of leucine metabolism
@nl
P2093
P2860
P356
P1476
Isovaleric acidemia: a new genetic defect of leucine metabolism
@en
P2093
K J Isselbacher
P2860
P304
P356
10.1073/PNAS.56.1.236
P407
P577
1966-07-01T00:00:00Z