An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study (Q33522273)

27 July 2017

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title

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study (English)

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27 July 2017

Vassili Valayannopoulos

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Vassili Valayannopoulos

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27 July 2017

Jolanta Sykut-Cegielska

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Jolanta Sykut-Cegielska

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27 July 2017

Julia Vodopiutz

41

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Allan M Lund

Allan Meldgaard Lund

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Dimitrios I. Zafeiriou

Dimitrios I Zafeiriou

46

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Graziella Uziel

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Graziella Uziel

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27 July 2017

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Moacir Wajner

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27 July 2017

Marjan E Steenweg

1

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27 July 2017

Cornelis Jakobs

2

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27 July 2017

Abdellatif Errami

3

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27 July 2017

Silvy J M van Dooren

4

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27 July 2017

Maria T Adeva Bartolomé

5

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27 July 2017

Peter Aerssens

6

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27 July 2017

Persephone Augoustides-Savvapoulou

7

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27 July 2017

Ivo Baric

8

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27 July 2017

Matthias Baumann

9

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27 July 2017

Luisa Bonafé

10

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27 July 2017

Brigitte Chabrol

11

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27 July 2017

Joe T R Clarke

12

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27 July 2017

Peter Clayton

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27 July 2017

Mahmut Coker

14

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27 July 2017

Sarah Cooper

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27 July 2017

Tzipora Falik-Zaccai

16

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27 July 2017

Mark Gorman

17

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27 July 2017

Andreas Hahn

18

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27 July 2017

Alev Hasanoglu

19

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27 July 2017

Mary D King

20

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27 July 2017

Hans B C de Klerk

21

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27 July 2017

Stanley H Korman

22

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27 July 2017

Céline Lee

23

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27 July 2017

Vlatka Mejaski-Bosnjak

25

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27 July 2017

Ignacio Pascual-Castroviejo

26

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27 July 2017

Aparna Raadhyaksha

27

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27 July 2017

Terje Rootwelt

28

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27 July 2017

Agathe Roubertie

29

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27 July 2017

Maria L Ruiz-Falco

30

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27 July 2017

Emmanuel Scalais

31

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27 July 2017

Ulf Schimmel

32

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27 July 2017

Manuel Seijo-Martinez

33

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27 July 2017

Mohnish Suri

34

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27 July 2017

Friedrich K Trefz

36

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27 July 2017

Christine Vianey-Saban

39

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27 July 2017

Stefan Vlaho

40

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27 July 2017

John Walter

43

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27 July 2017

Claudia Walter-Derbort

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27 July 2017

Zuhal Yapici

45

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27 July 2017

Marieke D Spreeuwenberg

47

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27 July 2017

Jacopo Celli

48

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27 July 2017

Johan T den Dunnen

49

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27 July 2017

Marjo S van der Knaap

50

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27 July 2017

Gajja S Salomons

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27 July 2017

1 April 2010

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27 July 2017

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27 July 2017

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27 July 2017

380-390

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27 July 2017

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L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers.

27 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

L-2-hydroxyglutaric aciduria in a West Highland white terrier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Prediction of complete gene structures in human genomic DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

A novel mutation as a cause of L-2-hydroxyglutaric aciduria.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

A successfully treated adult patient with L-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-hydroxyglutaric aciduria: three Australian cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21197

7 January 2021

Identifiers

DOI

10.1002/HUMU.21197

1 reference

27 July 2017

1 reference