L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
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Identification of a dehydrogenase acting on D-2-hydroxyglutarateA gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduriaA novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduriaCerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature dataSaccharomyces cerevisiae Forms D-2-Hydroxyglutarate and Couples Its Degradation to D-Lactate Formation via a Cytosolic Transhydrogenase.IDH1 and IDH2 mutations as novel therapeutic targets: current perspectives2-Hydoxyglutarate: D/Riving Pathology in gLiomaSPlants Possess a Cyclic Mitochondrial Metabolic Pathway similar to the Mammalian Metabolic Repair Mechanism Involving Malate Dehydrogenase and l-2-Hydroxyglutarate DehydrogenaseEthylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreadingAlterations in urine, serum and brain metabolomic profiles exhibit sexual dimorphism during malaria disease progression.Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.Metabolite proofreading, a neglected aspect of intermediary metabolism.A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduriaIdentification of novel L2HGDH gene mutations and update of the pathological spectrum.A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case studyHypoxia-Mediated Increases in L-2-hydroxyglutarate Coordinate the Metabolic Response to Reductive StressProgress in understanding 2-hydroxyglutaric aciduriasMitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion SyndromeSuccessive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria.Quantitative Imaging of D-2-Hydroxyglutarate in Selected Histological Tissue Areas by a Novel Bioluminescence Technique.What do we know about IDH1/2 mutations so far, and how do we use it?D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria.Role of isocitrate dehydrogenase in glioma.IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectivesCIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas.Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria.MRI features in 17 patients with l2 hydroxyglutaric aciduria.L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.Quantification of 2-Hydroxyglutarate Enantiomers by Liquid Chromatography-mass Spectrometry.D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.Reductive Stress in Inflammation-Associated Diseases and the Pro-Oxidant Effect of Antioxidant Agents.Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain.L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier.Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers.L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.Decreasing GSH and increasing ROS in chemosensitivity gliomas with IDH1 mutation.
P2860
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P2860
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
description
1980 nî lūn-bûn
@nan
1980 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年学术文章
@wuu
1980年学术文章
@zh-cn
1980年学术文章
@zh-hans
1980年学术文章
@zh-my
1980年学术文章
@zh-sg
1980年學術文章
@yue
name
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@ast
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@en
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@nl
type
label
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@ast
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@en
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@nl
prefLabel
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@ast
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@en
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@nl
P2093
P2860
P356
P1476
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
@en
P2093
Kamerling JP
van Gennip AH
P2860
P2888
P304
P356
10.1007/BF02312543
P577
1980-01-01T00:00:00Z
P6179
1047174682