(Q24559158)

L-2-hydroxyglutaric aciduria

GOA release 2020-03-11

1 reference

2

0 references

Emile Van Schaftingen

10

0 references

Miikka Vikkula

9

0 references

Marie-Cécile Nassogne

5

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author name string

Rim Rzem

1

0 references

Gaëtane Noël

3

0 references

Sophie Goffette

4

0 references

Brahim Tabarki

6

0 references

Christina Schöller

7

0 references

Thorsten Marquardt

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

0 references

publication date

30 November 2004

0 references

published in

0 references

volume

101

0 references

page(s)

16849-54

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issue

48

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cites work

The oxidation of l(-)alpha-hydroxyglutaric acid in animal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Predicting subcellular localization of proteins based on their N-terminal amino acid sequence

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Mechanistic studies on the rat kidney flavoenzyme L-α-hydroxy acid oxidase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

24 March 2017

2 references

https://api.crossref.org/works/10.1073/PNAS.0404840101

22 April 2017

https://api.crossref.org/works/10.1073%2FPNAS.0404840101

Biochemical and genetic characterization of the membrane-associated malate dehydrogenase (acceptor) from Corynebacterium glutamicum

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Assay of succinate dehydrogenase activity by a colorimetric-continuous method using iodonitrotetrazolium chloride as electron acceptor.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Equilibrium constants of several reactions involved in the fermentation of glutamate

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

A PCR artifact: generation of heteroduplexes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404840101

L-2-hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404840101

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404840101

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534725

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15548604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15548604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reduction of alpha-ketoglutarate by homogeneous lactic dehydrogenase X of testicular tissue

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15548604