日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Distribution of perivascular spaces distribution and relate to the clinical features of SCA3

血管周围间隙分布及其与SCA3临床特征的关系

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03954-3
Chen, Xinyuan; Lian, Yanhua; Lin, Wei; Xia, Xiaoyue; Zhang, Lin; Huang, Zhuoying; Cui, Maolin; Yuan, Ruying; Li, Mengcheng; Huang, Ziqiang; Chen, Naping; Tu, Yuqing; Hu, Jianping; Wang, Ning; Chen, Qunlin; Gan, Shirui
发表日期：2025
文献求助 收藏

Calciphylaxis following liver transplantation in a patient with end-stage renal disease: A case report

终末期肾病患者肝移植后发生钙化性尿毒症：病例报告

期刊:World Journal of Radiology
影响因子:1.5
doi:10.4329/wjr.v17.i5.105785
Wei, Xiang-Ling; Zhang, You-Wen; Han, Ming; Sun, Cheng-Jun; Lai, Guan-Zhi; Tang, Shui-Guo; Ye, Rong-Ji; Xu, Hao-Qing; Wu, Lin-Wei; Xia, Wu-Zheng
发表日期：2025
文献求助 收藏

Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1

中国广东省钠-牛磺胆酸共转运多肽缺乏症的分子流行病学：一项通过筛查致病基因SLC10A1的四种常见变异体进行的初步研究

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.874379
Li, Hua; Chen, Rong; Lin, Gui-Zhi; Lin, Wei-Xia; Yaqub, Muhammad-Rauf; Song, Yuan-Zong
发表日期：2022
文献求助 收藏

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis

儿童NTCP缺乏症的临床特征：基于SLC10A1基因分型分析的病例对照研究

期刊:Liver International
影响因子:5.2
doi:10.1111/liv.15031
Deng, Li-Jing; Ouyang, Wen-Xian; Liu, Rui; Deng, Mei; Qiu, Jian-Wu; Yaqub, Muhammad-Rauf; Raza, Muhammad-Atif; Lin, Wei-Xia; Guo, Li; Li, Hua; Chen, Feng-Ping; Ouyang, Ying; Huang, Yu-Ge; Huang, Yue-Jun; Long, Xiao-Ling; Huang, Xiao-Ling; Li, Shuang-Jie; Song, Yuan-Zong
发表日期：2021
文献求助 收藏

Physical and neuropsychological development of children with Citrin deficiency

瓜氨酸缺乏症患儿的生理和神经心理发育

期刊:Chinese Journal of Contemporary Pediatrics
影响因子:
doi:10.7499/j.issn.1008-8830.2108115
Zhang, Ni-Si; Zhang, Zhan-Hui; Lin, Wei-Xia; Zhang, Meng; Li, Bing-Xiao
发育与干细胞
发表日期：2021
文献求助 收藏

[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome]

[杜宾-约翰逊综合征患儿的临床特征及ABCC2基因型分析]

期刊:Chinese Journal of Contemporary Pediatrics
影响因子:
doi:10.7499/j.issn.1008-8830.2019.01.012
Meng, Lu-Lu; Qiu, Jian-Wu; Lin, Wei-Xia; Song, Yuan-Zong
发表日期：2019
文献求助 收藏

Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele

对一名患有肝内胆汁淤积症的婴儿进行瓜氨酸缺乏症的分子诊断：鉴定出一个21.7kb的大片段缺失，该缺失完全沉默了受累SLC25A13等位基因的转录和翻译表达。

期刊:Oncotarget
影响因子:
doi:10.18632/oncotarget.19901
Zhang, Zhan-Hui; Lin, Wei-Xia; Zheng, Qi-Qi; Guo, Li; Song, Yuan-Zong
发表日期：2017
文献求助 收藏

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

钠牛磺胆酸共转运多肽 (NTCP) 缺乏症：在两名无关婴儿中发现一种新的 SLC10A1 突变，这两名婴儿表现为新生儿间接高胆红素血症和显著高胆汁酸血症

期刊:Oncotarget
影响因子:
doi:10.18632/oncotarget.22503
Qiu Jian-Wu, Deng Mei, Cheng Ying, Atif Raza-Muhammad, Lin Wei-Xia, Guo Li, Li Hua, Song Yuan-Zong
其它
发表日期：2017
文献求助 收藏

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

瓜氨酸血症中SLC25A13基因的分析：东亚患者中发现16个新的突变，以及该突变在中国大型儿科队列中的分布

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0074544
Song, Yuan-Zong; Zhang, Zhan-Hui; Lin, Wei-Xia; Zhao, Xin-Jing; Deng, Mei; Ma, Yan-Li; Guo, Li; Chen, Feng-Ping; Long, Xiao-Ling; He, Xiang-Ling; Sunada, Yoshihide; Soneda, Shun; Nakatomi, Akiko; Dateki, Sumito; Ngu, Lock-Hock; Kobayashi, Keiko; Saheki, Takeyori
发表日期：2013
文献求助 收藏