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

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study

改善非洲罕见病诊断的可及性:一项多国试点研究的启示

Swanepoel, Albe Carina; Hendriksz, Christian Johannes; Mukhwana, Renson; Oduwole, Abiola; Abdalla, Asmahan T; Ameyaw, Emmanuel; Muze, Kandi-Catherine; Auruku, Andrew; Pinto, Felix; Joel, Dipesalema; Aleksovska, Vesna; Collin-Histed, Tanya; Odero, Roselyn; Conradie, Engela Helena

Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions

探讨戈谢病诊断延迟问题:来自社区调查的见解和潜在解决方案

Aragón, Diana Paulina Peña; Collin-Histed, Tanya; Abdelwahab, Magy; Espinosa, Jesús Villarrubia; Chertkoff, Raul; Balzekiene, Andre; Pacey, Jessica

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

一项难得的合作:患者群体与产业界携手,共同塑造真实世界证据对罕见病生态系统的影响。

Klein, T L; Bender, J; Bolton, S; Collin-Histed, T; Daher, A; De Baere, L; Dong, D; Hopkin, J; Johnson, J; Lai, T; Pavlou, M; Schaller, T; Žnidar, I

Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

戈谢病1型患者从儿科护理过渡到成人护理:两项国际患者和医疗保健专业人员调查的结果

Stepien, Karolina M; Žnidar, Irena; Kieć-Wilk, Beata; Jones, Angel; Castillo-García, Daniela; Abdelwahab, Magy; Revel-Vilk, Shoshana; Lineham, Ella; Hughes, Derralynn; Ramaswami, Uma; Collin-Histed, Tanya

Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey

了解戈谢病患者及其父母/照护者对基因治疗的看法:一项国际调查

Collin-Histed, Tanya; Rosenberg, Aviva; Hopman, Noortje; Pacey, Jessica

A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative

全球神经病变型戈谢病登记处(GARDIAN):一项由患者主导的倡议

Collin-Histed, Tanya; Stoodley, Madeline; Beusterien, Kathleen; Elstein, Deborah; Jaffe, Dena H; Revel-Vilk, Shoshana; Davies, Elin Haf

Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

人道主义项目对罕见病患者群体产生的变革性影响:构建支持系统和培养本地专业技能

Verma, I C; El-Beshlawy, A; Tylki-Szymańska, A; Martins, A; Duan, Y-L; Collin-Histed, T; van der Linde, M Schoneveld; Mansour, R; Dũng, V C; Mistry, Pramod K

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

一项面向全球服务不足社区溶酶体贮积症患者的慈善援助项目

Mehta, Atul; Ramaswami, Uma; Muenzer, Joseph; Giugliani, Roberto; Ullrich, Kurt; Collin-Histed, Tanya; Panahloo, Zoya; Wellhoefer, Hartmann; Frader, Joel

The definition of neuronopathic Gaucher disease

神经病变型戈谢病的定义

Schiffmann, Raphael; Sevigny, Jeff; Rolfs, Arndt; Davies, Elin Haf; Goker-Alpan, Ozlem; Abdelwahab, Magy; Vellodi, Ashok; Mengel, Eugen; Lukina, Elena; Yoo, Han-Wook; Collin-Histed, Tanya; Narita, Aya; Dinur, Tama; Revel-Vilk, Shoshana; Arkadir, David; Szer, Jeff; Wajnrajch, Michael; Ramaswami, Uma; Sidransky, Ellen; Donald, Aimee; Zimran, Ari

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease

利用可穿戴技术和手机应用程序远程测量疾病活动度和患者体验:戈谢病试点研究的结果

Donald, Aimee; Cizer, Huseyin; Finnegan, Niamh; Collin-Histed, Tanya; Hughes, Derralynn A; Davies, Elin Haf