神经系统遗传代谢病的诊断和治疗,尤其是线粒体脑肌病,线粒体肌病,有机酸血症(包括甲基丙二酸血症),各种代谢性肌肉病(如糖原累积病,脂质沉积病等)。 Diagnosis and management of genetic and metabolic diseases of nervous system, especially mitochondrial encephalomyopathy, mitochondrial myopathy, organic acidemias(including m
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