(Q28289742)

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Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

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Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency (English)

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E Christensen

1

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A Ribes

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2

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B Merinero

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3

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J Zschocke

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4

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language of work or name

English

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publication date

2004

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published in

Journal of Inherited Metabolic Disease

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volume

27

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issue

6

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page(s)

861-8

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cites work

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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Mutation analysis in glutaric aciduria type I.

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12 December 2020

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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

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

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12 December 2020

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Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

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12 December 2020

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Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

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12 December 2020

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

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PubMed

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12 December 2020

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Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15505393

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12 December 2020

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(Q28289742)

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

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