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Rapid progressive course of later-onset Pompe disease in Chinese patients

✍ Scribed by Chih-Chao Yang; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Shuan-Pei Lin; Yung-Ting Kuo; Shun-Sheng Chen; Yuh-Jyh Jong; Wuh-Liang Hwu


Book ID
116989372
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
571 KB
Volume
104
Category
Article
ISSN
1096-7192

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Molecular genetic study of Pompe disease
✍ Tsang-Ming Ko; Wuh-Liang Hwu; Yu-Wan Lin; Li-Hui Tseng,; Hsiao-Lin Hwa; Tso-Ren πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 138 KB πŸ‘ 1 views

Pompe disease is caused by mutations in the acid a-glucosidase (GAA) gene. Multiple kinds of mutations in the GAA gene have been reported worldwide. In order to elucidate the molecular basis of the disease in Taiwanese patients of Chinese origin, we have recruited 11 unrelated families who had at le