(Q73613991)

English

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

scientific article published on 01 July 1997

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266361%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266361%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

based on heuristic

inferred from title

author name string

E Christensen

1

1 reference

Europe PubMed Central

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5 November 2019

A Ribes

2

1 reference

Europe PubMed Central

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5 November 2019

C Busquets

3

1 reference

Europe PubMed Central

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5 November 2019

M Pineda

4

1 reference

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5 November 2019

M Duran

5

1 reference

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5 November 2019

B T Poll-The

6

1 reference

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5 November 2019

C R Greenberg

7

1 reference

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5 November 2019

H Leffers

8

1 reference

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5 November 2019

M Schwartz

9

1 reference

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5 November 2019

publication date

1 July 1997

1 reference

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5 November 2019

Journal of Inherited Metabolic Disease

1 reference

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5 November 2019

20

1 reference

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5 November 2019

383-386

1 reference

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5 November 2019

3

1 reference

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5 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005390214391

0 references

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric aciduria type I: Unusual biochemical presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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