Dijkstra U J, Willems J L, Joosten E M, Gabreëls F J
Ann Neurol. 1983 Mar;13(3):325-7. doi: 10.1002/ana.410130317.
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.
对7例弗里德赖希共济失调患者进行了肝脏、肌肉和培养成纤维细胞的生化研究。所有病例的肝脏和培养成纤维细胞中均显示丙酮酸羧化酶活性降低。