(Q46010976)

English

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

scientific article published on 27 April 2009

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

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

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

5

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

author name string

Ged O'Connor

1

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

M King

2

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

G Salomons

3

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

C Jakobs

4

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

publication date

27 April 2009

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

Journal of Neurology

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

256

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

4

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

672-673

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

https://scigraph.springernature.com/pub.10.1007/s00415-009-0107-z

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19444541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-009-0107-Z

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

1 reference

Europe PubMed Central

18 December 2017

http://europepmc.org/abstract/MED/19444541

ResearchGate publication ID

0 references

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