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Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy 期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2019, 卷号: 18, 期号: 3, 页码: 1945-1952
作者:  Jia, Ming-Rui;  Wu, Wen-Zhen;  Li, Chuan-Ming;  Cai, Xiao-Hui;  Zhang, Lin
收藏  |  浏览/下载:11/0  |  提交时间:2019/12/11
Rapid liquid chromatography-tandem mass spectrometry to determine very-long-chain fatty acids in human and to establish reference intervals for the Chinese population 期刊论文
2019, 卷号: 495, 页码: 185-190
作者:  Wang, Danchen;  Yu, Songlin;  Zhang, Yuanyuan;  Yin, Yicong;  Cheng, Qian
收藏  |  浏览/下载:17/0  |  提交时间:2020/01/03
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. 期刊论文
Medicine, 2018, 卷号: Vol.97 No.21, 页码: e10837
作者:  Wang, J;  Zhu, Q;  Liu, HQ
收藏  |  浏览/下载:2/0  |  提交时间:2019/02/28
S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy 期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 50, 页码: 87529-87538
作者:  Yan, Fang;  Wang, Wenbo;  Ying, Hui;  Li, Hongyu;  Chen, Jing
收藏  |  浏览/下载:2/0  |  提交时间:2019/12/11
Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts 期刊论文
CELL, 2015, 卷号: 161, 期号: 2, 页码: 291-306
作者:  Chu, BB;  Liao, YC;  Qi, W;  Xie, C;  Du, XM
收藏  |  浏览/下载:53/0  |  提交时间:2015/07/22
Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype 期刊论文
BMC MEDICAL GENETICS, 2014, 卷号: 15
作者:  Zhang, Yanliang;  Liu, Yanhui;  Li, Ya;  Duan, Yong;  Zhang, Keyun
收藏  |  浏览/下载:2/0  |  提交时间:2019/12/04
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy 期刊论文
GENE, 2013, 卷号: 522, 期号: 1
作者:  Niu, Yan-Fang;  Ni, Wang;  Wu, Zhi-Ying
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/19


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