(Q54393106)

29 May 2018

title

Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. (English)

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29 May 2018

author name string

Dinesh Rakheja

1

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29 May 2018

Midori Mitui

2

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29 May 2018

Richard L Boriack

3

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29 May 2018

Ralph J DeBerardinis

4

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29 May 2018

publication date

22 November 2010

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29 May 2018

published in

Pediatric Blood Cancer

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29 May 2018

volume

56

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29 May 2018

issue

3

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29 May 2018

page(s)

379-383

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29 May 2018

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect

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

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

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

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The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate

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Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations

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IDH1 mutations in gliomas: when an enzyme loses its grip

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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

21 January 2018

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Wilms tumor in a child with L-2-hydroxyglutaric aciduria

21 January 2018

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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

21 January 2018

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21 January 2018

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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

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Taxing sugar-sweetened beverages

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Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase

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Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias

21 January 2018

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21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

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21 January 2018

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Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

21 January 2018

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

21 January 2018

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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria

21 January 2018

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Two eminently treatable genetic metabolic myopathies

21 January 2018

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Glutaric aciduria type II [corrected] and brain tumors: a case report and review of the literature

21 January 2018

1 reference

L-2-hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders

21 January 2018

1 reference

Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer

21 January 2018

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IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors

21 January 2018

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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

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Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

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Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

21 January 2018

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Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PBC.22697

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29 May 2018

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29 May 2018