(Q46720153)

English

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed

scientific article published on 23 September 2005

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed (English)

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

author name string

Renata C Gallagher

1

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Tina M Cowan

2

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Stephen I Goodman

3

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Gregory M Enns

4

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

publication date

23 September 2005

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

86

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

3

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

417-420

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Type I glutaric aciduria, part 1: natural history of 77 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric aciduria type 1 and neonatal screening: time to proceed?with caution

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric aciduria type I: Unusual biochemical presentation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric aciduria type 1 an atypical presentation together with some observations upon treatment and the possible cause of cerebral damage

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

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://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Diagnosis and management of glutaric aciduria type I.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

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://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Stability of malonylcarnitine and glutarylcarnitine in stored blood spots

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.08.005

7 January 2021

Identifiers

10.1016/J.YMGME.2005.08.005

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16183314

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q46720153&oldid=2128063736"