(Q46147032)

19 December 2017

title

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria (English)

1 reference

19 December 2017

main subject

peripheral neuropathy

1 reference

G Haliloglu

1

1 reference

19 December 2017

C M Temucin

2

1 reference

19 December 2017

K K Oguz

3

1 reference

19 December 2017

A Celiker

4

1 reference

19 December 2017

T Coskun

5

1 reference

19 December 2017

J O Sass

6

1 reference

19 December 2017

J Fischer

7

1 reference

19 December 2017

M Topcu

8

1 reference

19 December 2017

publication date

26 January 2009

1 reference

19 December 2017

Journal of Inherited Metabolic Disease

published in

1 reference

19 December 2017

volume

32 Suppl 1

1 reference

19 December 2017

page(s)

S21-5

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19 December 2017

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

Peripheral neuropathy and inborn errors of metabolism in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

D-2-hydroxyglutaric aciduria: further clinical delineation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0933-2

D-2-hydroxyglutaric aciduria: case report and biochemical studies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19169842

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-009-0933-2

1 reference

19 December 2017

1 reference

19 December 2017