(Q48249296)

English

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

scientific article published in January 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

1 reference

based on heuristic

inferred from title

author name string

E P Treacy

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

A Lee-Chong

2

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

G Roche

3

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

B Lynch

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

S Ryan

5

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

S Goodman

6

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

publication date

1 January 2003

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

26

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

72-74

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

https://scigraph.springernature.com/pub.10.1023/a:1024087832406

0 references

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in glutaric aciduria type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1024087832406

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12872844

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