Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts
- 1 March 1983
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 13 (3) , 325-328
- https://doi.org/10.1002/ana.410130317
Abstract
Biochemical studies in liver, muscle, and cultured fibroblasts were carried out in seven patients with Friedreich ataxia. Lowered activity of pyruvate carboxylase was shown in liver and cultured fibroblasts in all instances.Keywords
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