Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts.

Autor: Dijkstra UJ, Willems JL, Joosten EM, Gabreëls FJ
Jazyk: angličtina
Zdroj: Annals of neurology [Ann Neurol] 1983 Mar; Vol. 13 (3), pp. 325-7.
DOI: 10.1002/ana.410130317
Abstrakt: 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.
Databáze: MEDLINE