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

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

阿加糖酶α治疗法布里病成人患者的长期疗效和安全性结果：来自法布里病结局调查的20年数据

期刊:European Journal of Clinical Investigation
影响因子:3.6
doi:10.1111/eci.70142
Hughes, Derralynn A; Pintos-Morell, Guillem; Kampmann, Christoph; Anagnostopoulou, Christina; Botha, Jaco; Jain, Siddharth; Nicholls, Kathleen; Niu, Dau-Ming; Reisin, Ricardo; West, Michael L; Schenk, Jörn; Ramaswami, Uma; Giugliani, Roberto
发表日期：2026
文献求助 收藏

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease

专家意见：如何促进罕见病患者家庭内部沟通——以法布里病为例

期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2025.103481
Germain, Dominique P; Al-Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C; Burlina, Alessandro P; Ezgü, Fatih; Laney, Dawn A; Linhart, Ales; Maski, Manish; Moiseev, Sergey; Niu, Dau-Ming; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Rawda, Sunbul; Steeds, Richard P; Tuttolomondo, Antonino; Yu, Wen-Chung; West, Michael L; Berger, Kenneth I; Maksimova, Irina
发表日期：2026
文献求助 收藏

Assessing the Evolution and Influence of Medical Open Databases on Biomedical Research and Health Care Innovation: A 25-Year Perspective With a Focus on Privacy and Privacy-Enhancing Technologies

评估医学开放数据库对生物医学研究和医疗保健创新的演变和影响：以隐私和隐私增强技术为重点的25年回顾

期刊:Journal of Medical Internet Research
影响因子:
doi:10.2196/58954
Yang, Albert; Pan, Mei-Lien; Lu, Henry Horng-Shing; Lien, Chung-Yueh; Wang, Da-Wei; Chen, Chih-Hsiung; Tarng, Der-Cherng; Niu, Dau-Ming; Chiou, Shih-Hwa; Wu, Chun-Ying; Sun, Ying-Chou; Chen, Shih-Ann; Wang, Shuu-Jiun; Sheu, Wayne Huey-Herng; Lin, Chi-Hung
发表日期：2026
文献求助 收藏

Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing.

发明了一种用于治疗由 RNA 剪接错误引起的法布里病的口服药物

期刊:Science Advances
影响因子:12.5
doi:10.1126/sciadv.adt9695
Awaya Tomonari, Ajiro Masahiko, Kobayashi Hiroko, Sawada Teruo, Gotanda Kentoku, Noji Toshiharu, Takemoto Naohiro, Iida Kei, Saito Megumu K, Niu Dau-Ming, Hagiwara Masatoshi
其它
药物研究
发表日期：2025
文献求助 收藏

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

甲基丙二酸血症患者体内毒性有机酸波动与神经发育的相关性

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03687-3
Ling, I-Chih; Niu, Dau-Ming; Yang, Chia-Feng; Lee, Cheng-Yu; Liang, Sheng-Bin; Chen, Yann-Jang
发育与干细胞
毒理研究
神经科学
发表日期：2025
文献求助 收藏

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

新生儿筛查有助于早期诊疗并改善脊髓性肌萎缩症的预后：来自台湾的五年真实世界证据

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03697-1
Wang, Chen-Hua; Hsu, Ting-Rong; Liu, Mei-Ying; Wang, Li-Yun; Chou, I-Jun; Lee, Wang-Tso; Liang, Wen-Chen; Lee, Inn-Chi; Chen, Hsiao-Jan; Kao, Shu-Min; Ho, Hui-Chen; Niu, Dau-Ming; Hsiao, Kwang-Jen; Chang, Ming-Yuh; Hsieh, Hui-Min; Jong, Yuh-Jyh
神经科学
肌萎缩症
发表日期：2025
文献求助 收藏

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta

一项多国时间动作研究，旨在描述使用阿加糖酶α和阿加糖酶β进行酶替代疗法治疗法布里病患者的经验和相关负担。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03707-2
Keyzor, Ian; Martins, Ana Maria; Uçar, Sema Kalkan; Yamakawa, Hiroyuki; Chien, Yin-Hsiu; Arslan, Nur; Niu, Dau-Ming; Tümer, Leyla; Baldock, Laura; Shohet, Simon; Giuliano, Joseph D
发表日期：2025
文献求助 收藏

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale

软骨发育不全儿童和青少年功能独立性评估：一项使用WeeFIM量表的多中心横断面研究

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics15192532
Lee, Chung-Lin; Fang, Hung-Hsiang; Chuang, Chih-Kuang; Niu, Dau-Ming; Lin, Ju-Li; Chao, Mei-Chyn; Chou, Yen-Yin; Chiu, Pao Chin; Hsu, Chia-Chi; Chu, Tzu-Hung; Chien, Yin-Hsiu; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
发育与干细胞
发表日期：2025
文献求助 收藏

Comparative Evaluation of AAV8 and AAV9 Gene Therapy in Fabry Knockout (Gla(-/y)) and Symptomatic (G3S(Tg/+)Gla(-/y)) Murine Models.

在法布里病敲除（Gla(-/y)）和症状性（G3S(Tg/+)Gla(-/y)）小鼠模型中对 AAV8 和 AAV9 基因治疗进行比较评价

期刊:Genes
影响因子:2.8
doi:10.3390/genes16070766
Chang Fu-Pang, Lee Ya-Ting, Liu Pao-Hsung, Chen Pei-Sin, Chen Yun-Ru, Niu Dau-Ming
基因治疗
发表日期：2025
文献求助 收藏

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy

二十年来，Fabry 结局调查的经验进一步证实了阿加糖酶α酶替代疗法的长期疗效。

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101215
Ramaswami, Uma; Pintos-Morell, Guillem; Kampmann, Christoph; Nicholls, Kathleen; Niu, Dau-Ming; Reisin, Ricardo; West, Michael L; Anagnostopoulou, Christina; Botha, Jaco; Jazukeviciene, Dalia; Schenk, Jörn; Hughes, Derralynn A; Giugliani, Roberto
发表日期：2025
文献求助 收藏