D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (Q34488993)

2 August 2017

title

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (English)

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D-2-hydroxyglutaric aciduria

2 August 2017

main subject

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E A Struys

1

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2 August 2017

N M Verhoeven

2

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G S Salomons

3

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2 August 2017

J Berthelot

4

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2 August 2017

C Vianay-Saban

5

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2 August 2017

S Chabrier

6

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2 August 2017

J A Thomas

7

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2 August 2017

A Chun-Hui Tsai

8

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2 August 2017

K M Gibson

9

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2 August 2017

C Jakobs

10

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2 August 2017

publication date

25 January 2006

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Molecular Genetics and Metabolism

2 August 2017

published in

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2 August 2017

volume

88

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2 August 2017

issue

1

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2 August 2017

page(s)

53-57

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Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

2 August 2017

cites work

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Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

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Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

7 January 2021

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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

7 January 2021

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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

7 January 2021

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Identification of a dehydrogenase acting on D-2-hydroxyglutarate

7 January 2021

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

7 January 2021

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Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

7 January 2021

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

7 January 2021

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Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

7 January 2021

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

7 January 2021

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

7 January 2021

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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.

7 January 2021

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

7 January 2021

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In vitro effects of D-2-hydroxyglutaric acid on glutamate binding, uptake and release in cerebral cortex of rats.

7 January 2021

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Gamma-hydroxybutyric acid

7 January 2021

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10.1016/J.YMGME.2005.12.002

7 January 2021

Identifiers

DOI

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2 August 2017

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