Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid (Q34689331)

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English	Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

title

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid (English)

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Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

main subject

L-2-hydroxyglutaric aciduria

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author name string

E A Struys

series ordinal

1

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stated in

Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

K M Gibson

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

C Jakobs

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

publication date

17 September 2007

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Europe PubMed Central

PubMed publication ID

17876720

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4 August 2017

published in

Journal of Inherited Metabolic Disease

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stated in

Europe PubMed Central

PubMed publication ID

17876720

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4 August 2017

volume

30

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Europe PubMed Central

PubMed publication ID

17876720

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4 August 2017

issue

5

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Europe PubMed Central

PubMed publication ID

17876720

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4 August 2017

page(s)

690-693

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Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

cites work

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L-2-hydroxyglutaric aciduria, a defect of metabolite repair

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17876720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10545-007-0697-5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

Dimensions Publication ID

1051988374

0 references

PubMed publication ID

17876720

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17876720

retrieved

4 August 2017

 

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