Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
- 1 June 1999
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 22 (4) , 381-391
- https://doi.org/10.1023/a:1005543904484
Abstract
The biochemical hallmark of glutaric aciduria type I (GA I) due to glutaryl‐CoA dehydrogenase deficiency is the accumulation of glutaric acid, and to a lesser degree of 3‐hydroxyglutaric and glutacon...Keywords
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