(Q48523925)

12 February 2018

title

L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. (English)

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12 February 2018

L-2-hydroxyglutaric aciduria

main subject

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2

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12 February 2018

author name string

S M Goffette

1

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12 February 2018

M-C L Nassogne

3

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12 February 2018

M-F A Vincent

4

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12 February 2018

C Jakobs

5

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12 February 2018

C J Sindic

6

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12 February 2018

publication date

1 May 2006

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12 February 2018

European Journal of Neurology

published in

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12 February 2018

volume

13

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12 February 2018

issue

5

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12 February 2018

page(s)

499-504

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12 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2006.01282.X

10.1111/J.1468-1331.2006.01282.X

21 January 2018

Identifiers

DOI

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12 February 2018

PubMed ID

16722976

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12 February 2018