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A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 3
作者:  Tang, Lu;  Sun, Minmin;  Pan, Cuizhen;  Shu, Xianhong;  Zhou, Nianwei
收藏  |  浏览/下载：41/0  |  提交时间：2019/12/05
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. 期刊论文
Neuromuscular disorders : NMD, 2019, 卷号: 29, 期号: 4
作者:  Tian Wo-Tu;  Luan Xing-Hua;  Zhou Hai-Yan;  Zhang Chao;  Huang Xiao-Jun
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/06
Childhood Cerebral Arteriopathy in Glycogen Storage Disease Type 1. 会议论文
STROKE, 2019-02-01
作者:  Hong Yuehui;  Yuan Yuheng;  Hou Bo;  Shu Shi;  Dai Yi
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Childhood Cerebral Arteriopathy in Glycogen Storage Disease Type 1. 期刊论文
2019, 卷号: 50
作者:  Hong Yuehui;  Yuan Yuheng;  Hou Bo;  Shu Shi;  Dai Yi
收藏  |  浏览/下载：12/0  |  提交时间：2020/01/03
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 56
作者:  Fu, Junling;  Wang, Tong;  Xiao, Xinhua
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells 期刊论文
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2018, 卷号: 117
作者:  Zhan, Yongkun;  Sun, Xiaolei;  Li, Bin;  Cai, Huanhuan;  Xu, Chen
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05
Glycogen storage disease type Ia misdiagnosed as multiple acylcoenzyme A dehydrogenase deficiency by mass spectrometry 期刊论文
Hepatology International, 2017, 卷号: 11
作者:  Du J., Dou L.-M., Jin Y.-H., Wen Q.-F., Ling Y.-F., Wang J.-S.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa 期刊论文
2017, 卷号: 627, 页码: 149-156
作者:  Zhang, Jiangwei;  Yuan, Yuheng;  Ma, Mingsheng;  Liu, Yan;  Zhang, Weimin
收藏  |  浏览/下载：17/0  |  提交时间：2020/01/04
Fibroblast growth factor 21 improves hepatic insulin sensitivity by inhibiting mammalian target of rapamycin complex 1 in mice 期刊论文
Hepatology, 2016, 卷号: 64, 期号: 2, 页码: 425-438
作者:  Gong, Qi;  Hu, Zhimin;  Zhang, Feifei;  Cui, Aoyuan;  Chen, Xin
收藏  |  浏览/下载：54/0  |  提交时间：2019/05/09
Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report 期刊论文
NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2016, 卷号: 12, 页码: 713-717
作者:  Zhang, Bin;  Zhao, Yuying;  Liu, Junling;  Li, Ling;  Shan, Jingli
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/16

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