(Q40596238)

English

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

scientific article published on January 2004

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scholarly article

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Europe PubMed Central

PubMed publication ID

21 September 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

author name string

Eduard A Struys

1

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Europe PubMed Central

PubMed publication ID

21 September 2017

Nanda M Verhoeven

2

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Europe PubMed Central

PubMed publication ID

21 September 2017

Henri Brunengraber

3

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21 September 2017

Cornelis Jakobs

4

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Europe PubMed Central

PubMed publication ID

21 September 2017

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publication date

1 January 2004

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Europe PubMed Central

PubMed publication ID

21 September 2017

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Europe PubMed Central

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21 September 2017

557

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Europe PubMed Central

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21 September 2017

1-3

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Europe PubMed Central

PubMed publication ID

21 September 2017

115-120

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Europe PubMed Central

PubMed publication ID

21 September 2017

Low molecular weight organic acids in the urine of the newborn

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

D-2-hydroxyglutaric aciduria: further clinical delineation

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

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21 January 2018

A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

Applications of mass isotopomer analysis to nutrition research

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

21 January 2018

Identification of the d-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2901459-5

7 January 2021

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

1 reference

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7 January 2021

Identifiers

10.1016/S0014-5793(03)01459-5

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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