A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria (Q24559158)

L-2-hydroxyglutaric aciduria

GOA release 2020-03-11

1 reference

2

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Emile Van Schaftingen

10

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Miikka Vikkula

9

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Marie-Cécile Nassogne

5

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author name string

Rim Rzem

1

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Gaëtane Noël

3

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Sophie Goffette

4

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Brahim Tabarki

6

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Christina Schöller

7

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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

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publication date

30 November 2004

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published in

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volume

101

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issue

48

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page(s)

16849-54

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cites work

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

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

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

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

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

inferred from PubMed ID database lookup

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

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