D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect (Q36443608)

14 August 2017

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title

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect (English)

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D-2-hydroxyglutaric aciduria

14 August 2017

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Eduard A Struys

1

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14 August 2017

1 February 2006

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Journal of Inherited Metabolic Disease

14 August 2017

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14 August 2017

29

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14 August 2017

1

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14 August 2017

21-29

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0317-9

14 August 2017

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Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase

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Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitro.

21 January 2018

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The oxidation of D-alpha-hydroxy acids in animal tissues

21 January 2018

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Developmental time courses in the brain and kidney of two enzymes that oxidize gamma-hydroxybutyrate.

21 January 2018

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12 December 2020

Metabolism of 2-amino-5-hydroxyadipic acid in the rat

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12 December 2020

Propionate metabolism. 3. Studies on the significance of the alpha-hydroxyglutarate pathway

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12 December 2020

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

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12 December 2020

Low molecular weight organic acids in the urine of the newborn

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12 December 2020

D-2-hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats

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12 December 2020

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

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12 December 2020

Distribution of 14C-labelled carbon from glucose and glutamate during anaerobic growth of Saccharomyces cerevisiae

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12 December 2020

L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

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12 December 2020

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine

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12 December 2020

NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria

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12 December 2020

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

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12 December 2020

Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria

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12 December 2020

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

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12 December 2020

Oxidation of gamma-hydroxybutyrate to succinic semialdehyde by a mitochondrial pyridine nucleotide-independent enzyme.

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12 December 2020

Urinary organic acids quantitated by age groups in a healthy pediatric population

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12 December 2020

D-2-hydroxyglutaric aciduria: case report and biochemical studies

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12 December 2020

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins

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12 December 2020

D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria

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12 December 2020

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

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12 December 2020

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

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12 December 2020

Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias

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12 December 2020

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

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12 December 2020

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride

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12 December 2020

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

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12 December 2020

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

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12 December 2020

Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table

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12 December 2020

Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency

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12 December 2020

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

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12 December 2020

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

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12 December 2020

Facial anomalies in D-2-hydroxyglutaric aciduria

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12 December 2020

Degradation of 5-hydroxylysine in the rat and in the perfused liver

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12 December 2020

Inhibition of creatine kinase activity from rat cerebral cortex by D-2-hydroxyglutaric acid in vitro.

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12 December 2020

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

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12 December 2020

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria

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12 December 2020

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 aciduria

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12 December 2020

The reversible dehydration of (R)-2-hydroxyglutarate to (E)-glutaconate.

1 reference

12 December 2020

D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

1 reference

12 December 2020

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

1 reference

12 December 2020

alpha-Hydroxyglutarate as an intermediate in the catabolism of alpha-aminoadipate by Pseudomonas putida

1 reference

12 December 2020

Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias

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12 December 2020

D-2-hydroxyglutaric aciduria: further clinical delineation.

1 reference

12 December 2020

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

1 reference

12 December 2020

D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings

1 reference

12 December 2020

Inhibition of mitochondrial creatine kinase activity by D-2-hydroxyglutaric acid in cerebellum of young rats.

1 reference

12 December 2020

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

D-2-hydroxyglutaric acid inhibits creatine kinase activity from cardiac and skeletal muscle of young rats.

1 reference

12 December 2020

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

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12 December 2020

Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria

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12 December 2020

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

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12 December 2020

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.

1 reference

12 December 2020

10.1007/S10545-006-0317-9

Identifiers

DOI

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14 August 2017

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PubMed ID

16601864