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Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts

✍ Scribed by U. J. Dijkstra; J. L. Willems; Dr E. M. G. Joosten; F. J. M. Gabreëls

Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
386 KB
Volume
13
Category
Article
ISSN
0364-5134

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✦ Synopsis

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.

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