Trijbels J M, Sengers R C, Ruitenbeek W, Fischer J C, Bakkeren J A, Janssen A J
Department of Paediatrics, University of Nijmegen, The Netherlands.
Eur J Pediatr. 1988 Nov;148(2):92-7. doi: 10.1007/BF00445910.
The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.
临床上几乎不可能识别出线粒体呼吸链有缺陷的患者。我们描述了应进行的筛查测试，以便挑选出那些需要进行骨骼肌活检以进行更具体生化检测的患者。强调了进行体内功能测试的重要性。介绍了呼吸链疾病的生化诊断，并讨论了免疫方法的应用。
