Literature DB >> 25612604

Two novel mutations in the gene that codes for acid α-glucosidase in a baby with Pompe disease.

Jinling Hu1, Lu Sun1, Weidong Ren2, Min Xu1.   

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Year:  2015        PMID： 25612604     DOI： 10.1093/eurheartj/ehu454

Source DB:  PubMed          Journal:  Eur Heart J        ISSN： 0195-668X            Impact factor:   29.983


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  1 in total

1.  Characteristics of Pompe disease in China: a report from the Pompe registry.

Authors:  Yuying Zhao; Zhaoxia Wang; Jiahong Lu; Xuefan Gu; Yonglan Huang; Zhengqing Qiu; Yanping Wei; Chuanzhu Yan
Journal:  Orphanet J Rare Dis       Date:  2019-04-03       Impact factor: 4.123
  1 in total

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