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

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension

Lucerastat，一种用于治疗法布里病的口服药物：一项关键性随机3期研究及其开放标签扩展研究的结果

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-68256-5
Nordbeck, Peter; Goker-Alpan, Ozlem; Bernat, John A; Germain, Dominique P; Giraldo, Pilar; Jovanovic, Ana; Kimonis, Virginia; Nicholls, Kathleen; Rockman-Greenberg, Cheryl; Schiffmann, Raphael; Thomas, Mark; Tylki-Szymanska, Anna; Wallace, Eric; Welford, Richard W D; West, Michael L; Clozel, Martine; Frey, Aline; Trokan, Luba; Mueller, Markus S; Vogler, Markus; Wanner, Christoph; Hughes, Derralynn
发表日期：2026
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Reappraising cardiac function with myocardial contraction fraction: normal values, disease detection, and prognostication

利用心肌收缩分数重新评估心脏功能：正常值、疾病检测和预后

期刊:European Heart Journal-Cardiovascular Imaging
影响因子:6.6
doi:10.1093/ehjci/jeag019
Kurdi, Hibba; Thornton, George; Shiwani, Hunain; Artico, Jessica; Abiodun, Aderonke; Castelletti, Silvia; Rosmini, Stefania; Nordin, Sabrina; Augusto, Joao; Kozor, Rebecca; Maestrini, Viviana; Al Saikhan, Lamia; Gul, Uzma; Joy, George; Hughes, Rebecca; Bhuva, Anish; Meredith, Benjamin; Captur, Gabriella; Fontanna, Marianna; Hughes, Derralynn; Kellman, Peter; Hughes, Alun D; Schelbert, Erik; Manisty, Charlotte H; Treibel, Thomas A; Moon, James C; Davies, Rhodri H
发表日期：2026
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Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation

法布里病内皮功能障碍：视网膜生物标志物将心脏GLA基因变异与慢性炎症联系起来

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00540-1
Wallraven, Timon; Regenbogen, Claudia; Günthner, Roman; Ribeiro, Andrea; Carbajo-Lozoya, Javier; Hannane, Nora; Wunderle, Michael; Assaf, Abdelrahman; Lech, Maciej; Hanssen, Henner; Streese, Lukas; Hughes, Derralynn; Haller, Bernhard; Kotliar, Konstantin; Heemann, Uwe; Schmaderer, Christoph
炎症/感染
炎症
发表日期：2026
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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
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Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies

使用维拉葡糖苷酶α治疗1型戈谢病患者可改善骨矿物质密度：临床研究结果

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm15072537
Zimran, Ari; Botha, Jaco; Eastell, Richard; Ficicioglu, Can; Finkelman, Richard D; Frydman, Dafna; Giraldo, Pilar; Goker-Alpan, Ozlem; Kishnani, Priya S; Lau, Heather; Ruhrman-Shahar, Noa; Hughes, Derralynn A
发表日期：2026
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Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort

法布里病卒中：大型单中心队列研究中卒中危险因素的识别

期刊:European Journal of Neurology
影响因子:3.9
doi:10.1111/ene.70415
Moreno-Martinez, David; Lucas-Del-Pozo, Sara; Lavalle, Lucia; Ramaswami, Uma; Ginsberg, Lionel; Pintos-Morell, Guillem; Hughes, Derralynn A
发表日期：2025
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Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry

一项全球真实世界队列研究评估了米格司他治疗3.9年的肾脏和多系统疗效：来自followME Fabry Pathfinders注册研究的结果

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12771
Hughes, Derralynn A; Sunder-Plassmann, Gere; Jovanovic, Ana; Brand, Eva; West, Michael L; Bichet, Daniel G; Pisani, Antonio; Nowak, Albina; Torra, Roser; Khan, Aneal; Azevedo, Olga; Lehman, Anna; Linhart, Aleš; Rutecki, Jasmine; Giuliano, Joseph D; Krusinska, Eva; Nordbeck, Peter
发表日期：2025
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A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

一项 III 期开放标签临床试验，评估每 4 周一次的培尼加糖苷酶 alfa 对既往接受过其他酶替代疗法治疗的法布里病成人患者的疗效。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12795
Holida, Myrl; Linhart, Aleš; Pisani, Antonio; Longo, Nicola; Eyskens, François; Goker-Alpan, Ozlem; Wallace, Eric; Deegan, Patrick; Tøndel, Camilla; Feldt-Rasmussen, Ulla; Hughes, Derralynn; Sakov, Anat; Rocco, Rossana; Almon, Einat Brill; Alon, Sari; Chertkoff, Raul; Warnock, David G; Waldek, Stephen; Wilcox, William R; Bernat, John A
发表日期：2025
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Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

利用法布里病结局调查和戈谢病结局调查的数据对自我给药酶替代疗法进行安全性分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03416-2
Revel-Vilk, Shoshana; Ramaswami, Uma; Pintos-Morell, Guillem; Hughes, Derralynn; Nicholls, Kathy; Reisin, Ricardo; Giugliani, Roberto; Goker-Alpan, Ozlem; Istaiti, Majdolen; Gill, Aidan; Scarpa, Maurizio; Botha, Jaco
发表日期：2025
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Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review

法布里病治疗的临床疗效和真实世界有效性：系统性文献综述

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm14145131
Jovanovic, Ana; Miller-Hodges, Eve; Castriota, Felicia; Evuarherhe, Obaro; Ayodele, Olulade; Hughes, Derralynn; Pintos-Morell, Guillem; Giugliani, Roberto; Feriozzi, Sandro; Siffel, Csaba
发表日期：2025
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