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Article

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Jan 2004

Christensen E, Ribes A, Merinero B, Zschocke J

Abstract excerpt

We have investigated the correlation between genotype and phenotype in a large number of patients with glutaric aciduria type I (GA I). The deficiency of glutaryl-CoA dehydrogenase has been confirmed in the Rigshospitalet's laboratory in 215 patients since 1975. Most of the patients were of European ancestry. Complete absence of enzyme activity was found in more than half of the patients, while 34% of patients...

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Identifiers

PMID: 15505393
DOI: 10.1023/B:BOLI.0000045770.93429.3c

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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