Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria (Q39918061)

15 September 2017

title

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria (English)

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Raquel Dodelson de Kremer

15 September 2017

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8

object named as

Raquel Dodelson de Kremer

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Wanda Gradowska

11

object named as

Wanda Gradowska

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15 September 2017

13

Lily Islam

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15 September 2017

Martijn Kranendijk

1

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15 September 2017

Eduard A Struys

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K Michael Gibson

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Wjera V Wickenhagen

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15 September 2017

Jose E Abdenur

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Jochen Buechner

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15 September 2017

Ernst Christensen

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15 September 2017

Raquel Dodelson de Kremer

8

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15 September 2017

Abdellatif Errami

9

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Paul Gissen

10

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15 September 2017

Emma Hobson

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Stanley H Korman

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Thaddeus Kurczynski

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Bruno Maranda

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Concetta Meli

17

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Cristiano Rizzo

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Claude Sansaricq

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Friedrich K Trefz

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Rachel Webster

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Cornelis Jakobs

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Gajja S Salomons

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15 September 2017

publication date

1 March 2010

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15 September 2017

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15 September 2017

volume

31

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15 September 2017

issue

3

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15 September 2017

page(s)

279-283

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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

15 September 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.21186

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

Molecular aetiology of primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

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.21186

7 January 2021

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

D-2-hydroxyglutaric aciduria: further clinical delineation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

7 January 2021

Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21186

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.21186

7 January 2021

Identifiers

DOI

10.1002/HUMU.21186

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15 September 2017

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