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

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。

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

Clinical Decision Support Aiming to Accelerate Triage and Time to Dextrose-Containing IV Fluids in the ED for Children with Severe Metabolic Conditions

临床决策支持旨在加快急诊科严重代谢性疾病患儿的分诊和给予含葡萄糖静脉输液的时间

Kandaswamy, Swaminathan; Jain, Shabnam; Chambers, Dwight Diaz; Wilcox, William R; Agha, Beesan S; Dennis, Hailey; Brown, Sara P; Orenstein, Evan W

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease

历史对照分析表明,在经典型法布里病男性患者中,与安慰剂或阿加糖酶β相比,Venglustat 可更显著地降低血浆三己糖神经酰胺 (Gb3) 水平。

Germain, Dominique P; DasMahapatra, Pronabesh; Liu, Shiguang; Deegan, Patrick; Ortiz, Alberto; Modur, Vijay; Wilcox, William R

Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model

利用群体药代动力学模型开发沃索利肽治疗软骨发育不全患儿的体重分级给药方案

Qi, Yulan; Chan, Ming Liang; Mould, Diane R; Larimore, Kevin; Fisheleva, Elena; Cherukuri, Anu; Day, Jonathan; Savarirayan, Ravi; Irving, Melita; Bacino, Carlos A; Hoover-Fong, Julie; Ozono, Keiichi; Mohnike, Klaus; Wilcox, William R; Bober, Michael B; Henshaw, Joshua

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

沃索利肽治疗儿童软骨发育不全:早期经验和临床实践中的实用考量

Semler, Oliver; Cormier-Daire, Valérie; Lausch, Ekkehart; Bober, Michael B; Carroll, Ricki; Sousa, Sérgio B; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J; Legare, Janet M; Mohnike, Klaus; Rohrer, Tilman R; Rutsch, Frank; Smith, Pamela; Travessa, Andre M; Verardo, Angela; White, Klane K; Wilcox, William R; Hoover-Fong, Julie

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

在患有法布里病且肾功能恶化的患者中,培尼加糖酶α与阿加糖酶β的头对头试验:来自为期2年的随机III期BALANCE研究的结果

Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Venglustat,一种口服葡糖基神经酰胺合成酶抑制剂:一项开放标签的 II 期研究及其扩展研究,对患有经典法布里病的成年男性进行了为期 3 年的评估。

Deegan, Patrick B; Goker-Alpan, Ozlem; Geberhiwot, Tarekegn; Hopkin, Robert J; Lukina, Elena; Tylki-Szymanska, Anna; Zaher, Atef; Sensinger, Charlotte; Gaemers, Sebastiaan J M; Modur, Vijay; Thurberg, Beth L; Sharma, Jyoti; Najafian, Behzad; Mauer, Michael; DasMahapatra, Pronabesh; Wilcox, William R; Germain, Dominique P

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

沃索利肽对软骨发育不全患儿具有安全且持久的促生长作用:一项开放标签的3期扩展研究的2年结果

Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R; Bacino, Carlos A; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B; Polgreen, Lynda E; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kotani, Yumiko; Yasui, Natsuo; White, Klane K; Saal, Howard M; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan R S

Social distancing, home-infusion and oral therapy: Evolving paradigms on Gaucher disease management in Spain during COVID-19 pandemic

社交隔离、居家输液和口服疗法:新冠疫情期间西班牙戈谢病管理模式的演变

Bennett, James T; Vasta, Valeria; Zhang, Min; Narayanan, Jaya; Gerrits, Peter; Hahn, Si Houn; Lau, Heather A; Daniel, Amanda; Owens, Vaughan; Maw, Kate; Acosta-Rodriguez-Bueno, Carlos Patricio; Cerón-Rodriguez, Magdalena; Castillo-Garcia, Daniela; Ryan, Emory; Lopez, Grisel; Balwani, Manisha; Barbouth, Deborah; Burrow, T Andrew; Ginns, Edward; Goker-Alpan, Ozlem; Grabowski, Gregory; Kartha, Reena; Kishnani, Priya; Lau, Heather; Lee, Chung; Mistry, Pramod; Maegawa, Gustavo; Packman, Seymour; Prada, Carlos; Rosenbloom, Barry; Lal, Tamanna Roshan; Schiffmann, Raphael; Weinreb, Neal; Sidransky, Ellen; Schwartz, Ida VD; Randon, Dévora N; Ferraro, Lethicia C; de Souza, Carolina FM; Horovitz, Dafne DG; de Sá, Natan M; Brunoni, Decio; Karabul, Nesrin; Rose, Frank; Cipra, Gabriella; Wilke, Matheus V; de Souza, Carolina Fischinger Moura; Giugliani, Roberto; Schwartz, Ida V; Frey, Aline; Trokan, Luba; Vogler, Markus; Hughes, Derralynn; Gimona, Alberto; Laney, Dawn A; Germain, Dominique P; Oliveira, João Paulo; Burlina, Alessandro P; Cabrera, Gustavo H; Hong, Geu-Ru; Hopkin, Robert J; Niu, Dau-Ming; Thomas, Mark; Trimarchi, Hernán; Wilcox, William R; Politei, Juan M; Ortiz, Alberto; Cappellini, Maria Domenica; Barbato, Antonio; Carubbi, Francesca; Di Rocco, Maja; Giona, Fiorina; Giuffrida, Gaetano; Linari, Silvia; Quarta, Antonella; Scarpa, Maurizio; Spada, Marco; Horovitz, Dafne Dain Gandelman; Barth, Anneliese Lopes; Alves, Welton Correia; Llerena, Juan Clinton Jr; Sahasrabudhe, Siddhee A; Al-Kofahi, Mahmoud; Cloyd, James C; Weinreb, Neal; Kartha, Reena V; Schwartz, Ida VD; Silva, Thiago O; Poswar, Fabiano O; Souza, Carolina FM; Giugliani, Roberto; Fierro, Luca; Nesheiwat, Nora; Naik, Hetanshi; Mistry, Pramod K; Balwani, Manisha; Peris, Jorge; Esteban, María José; Robert, Jaqueline; Wikman, Philip; Seguí, José Miguel; Cañizares, Ruth; Esteve, Pedro; Chazarra, Paloma; Asensio, María Luisa; Martínez, Verónica; Sempere, Azucena; Balaz, David; Riaño, Andrea; Lajara, Lourdes; Giner, Vicente; Andrade-Campos, Marcio M; Azuara, Beatriz Escuder; Perez-Valero, Conchita; de Frutos, Laura Lopez; Gonzalo, Irene Serrano; Pilar on behalf of GEEDL Giraldo

The emerging neurological spectrum of AARS2-associated disorders

AARS2相关疾病的新兴神经系统谱系

Parra, Sahyli Perez; Heckers, Stephan H; Wilcox, William R; Mcknight, Colin David; Jinnah, H A