L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
about
A 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 dataWriter's cramp as a presentation of L-2-hydroxyglutaric aciduriaD-2-hydroxyglutaric aciduriaMetabolite proofreading, a neglected aspect of intermediary metabolism.A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduriaA mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.Progress in understanding 2-hydroxyglutaric aciduriasSuccessive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria.An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed caseMRI features in 17 patients with l2 hydroxyglutaric aciduria.D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.Tracing the origin of L-2-hydroxyglutaric aciduria in a family.Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain.L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.Chiral separation of disease biomarkers with 2-hydroxycarboxylic acid structure.A model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation
P2860
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P2860
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@ast
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@en
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@nl
type
label
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@ast
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@en
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@nl
prefLabel
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@ast
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@en
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@nl
P2093
P3181
P356
P1433
P1476
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
@en
P2093
A H van Gennip
F Hanefeld
G F Hoffmann
R B Schutgens
P3181
P356
10.1002/ANA.410320111
P407
P577
1992-07-01T00:00:00Z