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5. Acid Alpha-Glucosidase Gene Mutation Analysis in 30 Chinese Patients with Pompe Disease

Acid Alpha-Glucosidase Gene Mutation Analysis in 30 Chinese Patients with Pompe Disease

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户：scnbyfy

【摘 要】

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Objective To report the clinical features and acid alpha-glucosidase (GAA) gene mutations of Chinese patients with Pompe disease.Methods Thirty patients with Pompe disease were enrolled in this study.

【作 者】

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Weina JIN Qi LIU Juan ZHAO Xiao LIU Zhao-xia WANG Wei ZHANG Yun YUAN 

【机 构】

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Department of Neurology, Peking University First Hospital

【出 处】

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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie

【发表日期】

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2013年7期

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Objective To report the clinical features and acid alpha-glucosidase (GAA) gene mutations of Chinese patients with Pompe disease.Methods Thirty patients with Pompe disease were enrolled in this study.We underwent muscle biopsy, GAA enzyme activity measurement and GAA gene mutation analysis to diagnose Pompedisease.

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