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糖原贮积病Ⅱ型发展史

Cheng ZHANG,Liang WANG

Chinese Journal of Contemporary Neurology and Neurosurgery（2018）

Cited 2|Views7
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Abstract
糖原贮积病Ⅱ型亦称Pompe病,是酸性α-葡糖苷酶(GAA)基因突变导致的常染色体隐性遗传代谢性疾病,主要累及骨骼肌和心肌,迄今有85年历史,目前有特异性酶替代疗法.本文回顾糖原贮积病Ⅱ型临床发现、基础研究、基因诊断、酶替代治疗过程中的里程碑事件,学习疾病研究发展历程,以期启发和指导临床医师开展科研.
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Key words
Glycogen storage disease type Ⅱ,History of medicine,Review
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