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

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

神经病变型戈谢病患者接受造血干细胞移植后30年的临床结果

Donald, Aimee; Björkvall, Cecilia Kämpe; Vellodi, Ashok; Cox, Timothy M; Hughes, Derralyn; Jones, Simon A; Wynn, Robert; Machaczka, Maciej

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

了解和改善法布里病:一项关键性3期研究的理论基础和设计以及一项患者报告结局验证研究的结果

Wanner, Christoph; Kimonis, Virginia; Politei, Juan; Warnock, David G; Üçeyler, Nurcan; Frey, Aline; Cornelisse, Peter; Hughes, Derralyn

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

眼动生物标志物可用于定义戈谢病的表型

Donald, Aimee; Tan, Chong Y; Chakrapani, Anupam; Hughes, Derralyn A; Sharma, Reena; Cole, Duncan; Bardins, Stanislav; Gorges, Martin; Jones, Simon A; Schneider, Erich

Quantitative Myocardial Perfusion in Fabry Disease

法布里病患者的定量心肌灌注

Knott, Kristopher D; Augusto, Joao B; Nordin, Sabrina; Kozor, Rebecca; Camaioni, Claudia; Xue, Hui; Hughes, Rebecca K; Manisty, Charlotte; Brown, Louise A E; Kellman, Peter; Ramaswami, Uma; Hughes, Derralyn; Plein, Sven; Moon, James C

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

氨溴索改善与葡萄糖脑苷脂酶突变相关的帕金森病细胞中的溶酶体生物化学

Alisdair McNeill, Joana Magalhaes, Chengguo Shen, Kai-Yin Chau, Derralyn Hughes, Atul Mehta, Tom Foltynie, J Mark Cooper, Andrey Y Abramov, Matthew Gegg, Anthony H V Schapira

Novel pathogenic mutations in the glucocerebrosidase locus

葡糖脑苷脂酶基因座的新型致病突变

Duran, Raquel; McNeill, Alisdair; Mehta, Atul; Hughes, Derralyn; Cox, Timothy; Deegan, Patrick; Schapira, Anthony H V; Hardy, John

Potential biomarkers of osteonecrosis in Gaucher disease

戈谢病骨坏死的潜在生物标志物

Elena V Pavlova, Patrick B Deegan, Jane Tindall, Ian McFarlane, Atul Mehta, Derralyn Hughes, J Edmond Wraith, Timothy M Cox