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D

Derralynn Hughes

royal free london nhs foundation trust and university college london

74H指数
665论文数
1.8W被引数
收录论文 297
发表时间
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Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review评估法布里病患者接受酶替代疗法时抗药抗体与疗效和安全性结局之间的关系：一项系统文献综述
errOrphanet Journal of Rare Diseases
IF3.5
err2026-07-16
err0
errOAAI
errPatricio Aguiar; John A. Bernat; Derralynn Hughes
err分享
err收藏
Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies使用velaglucerase alfa治疗的患者中1型戈谢病骨矿物质密度的改善：临床研究结果
errJournal of Clinical Medicine
IF2.9
err2026-04-06
err0
errOAAI
errAri Zimran; Jaco Botha; Richard Eastell; Can Ficicioglu; Richard D. Finkelman; Dafna Frydman; Pilar Giraldo; Ozlem Goker-Alpan; Priya S. Kishnani; Heather Lau; Noa Ruhrman-Shahar; Derralynn A. Hughes
err分享
err收藏
Reappraising cardiac function with myocardial contraction fraction: normal values, disease detection, and prognosticationKurdi, H.; Thornton, G.; Shiwani, H.; Artico, J.; Abiodun, A.; Castelletti, S.; Rosmini, S.; Nordin, S.; Augusto, J.; Kozor, R.; et al. 重新评估心脏功能：心肌收缩分数的临床应用价值——正常值、疾病检测与预后判断。Eur. Heart J. Cardiovasc. Imaging 2026, 27, 803–816. [Google Scholar] [CrossRef]
errEuropean Heart Journal-Cardiovascular Imaging
IF6.6
err2026-04-01
err0
PREAI
errKurdi, 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.
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err收藏
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation
errnpj Genomic Medicine
IF4.8
err2026-01-16
err0
errOAAI
errTimon Wallraven; Claudia Regenbogen; Roman Günthner; Andrea Ribeiro; Javier Carbajo-Lozoya; Nora Hannane; Michael Wunderle; Abdelrahman Assaf; Maciej Lech; Henner Hanssen; Lukas Streese; Derralynn Hughes; Bernhard Haller; Konstantin Kotliar; Uwe Heemann; Christoph Schmaderer
err分享
err收藏
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension卢塞拉stat，一种用于法布里病的口服疗法：关键性随机III期研究及其开放标签扩展研究的结果
errNature Communications
IF15.7
err2026-01-10
err0
errOAAI
errPeter Nordbeck; Ozlem Goker-Alpan; John A. Bernat; Dominique P. Germain; Pilar Giraldo; Ana Jovanovic; Virginia Kimonis; Kathleen Nicholls; Cheryl Rockman-Greenberg; Raphael Schiffmann; Mark Thomas; Anna Tylki-Szymanska; Eric Wallace; Richard W. D. Welford; Michael L. West; Martine Clozel; Aline Frey; Luba Trokan; Markus S. Mueller; Markus Vogler; Christoph Wanner; Derralynn Hughes
err分享
err收藏
Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort法布里病中的卒中：识别大型单中心队列中卒中的危险因素
errEuropean Journal of Neurology
IF3.9
err2025-11-07
err0
errOAAI
errDavid Moreno-Martinez; Sara Lucas-Del-Pozo; Lucia Lavalle; Uma Ramaswami; Lionel Ginsberg; Guillem Pintos-Morell; Derralynn A. Hughes
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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 Surveyα-半乳糖苷酶A治疗法布里病成年患者的长期有效性与安全性结局：法布里结局登记研究20年数据
errEuropean Journal of Clinical Investigation
IF3.6
err2025-11-06
err0
errOAAI
errDerralynn A. Hughes; Guillem Pintos-Morell; Christoph Kampmann; Christina Anagnostopoulou; Jaco Botha; Siddharth Jain; Kathleen Nicholls; Dau-Ming Niu; Ricardo Reisin; Michael L. West; Jörn Schenk; Uma Ramaswami; Roberto Giugliani
err分享
err收藏
Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III—Review of the Experimental and Clinical EvidenceI型、II型和III型戈谢病中的继发性线粒体功能障碍——实验和临床证据综述
errGenes 2025, Vol. 16, Page 1269
IF2.8
err2025-10-29
err0
errOAAI
errMollie Dewsbury; Tyler Purcell; Derralynn Hughes; Aimee Donald; Iain P. Hargreaves; Karolina M. Stepien
err分享
err收藏
Alpha-synuclein inclusions reduced by PIKfyve inhibition in Parkinson's disease cell modelsPIKfyve抑制在帕金森病细胞模型中减少了α-突触核蛋白包涵体
errNeurobiology of Disease
IF5.6
err2025-08-12
err0
errOAAI
errSara Lucas-Del-Pozo; Giuseppe Uras; Federico Fierli; Veronica Lentini; Sofia Koletsi; Carlos Lazaro-Hernandez; Kai-Yin Chau; Derralynn A. Hughes; Anthony H.V. Schapira
err分享
err收藏
Progression of left ventricular mass is associated with clinical events in key subgroups of Fabry disease: Analyses from the Fabry Registry左心室质量进展与法布里病关键亚组中的临床事件相关：法布里病登记研究分析
errMolecular Genetics and Metabolism
IF3.5
err2025-07-23
err0
PREAI
errJames C. Moon; Gavin Y. Oudit; Julie L. Batista; Kathryn M. Wilson; Pronabesh DasMahapatra; Derralynn Hughes; Aleš Linhart
err分享
err收藏
Gaucher disease Type 3: classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort戈谢病类型3：基于基因分型，对表型异质性队列中慢性神经元病变变体的分类
errGenetics in Medicine
IF6.2
err2025-06-18
err0
PREAI
errAimée Donald; Simon A. Jones; Derralynn A. Hughes; Heather J. Church; ; Timothy M. Cox
err分享
err收藏
Current and Emerging Therapies for Lysosomal Storage Disorders (vol 85, pg 171, 2025)溶酶体贮积症当前和新兴疗法（卷 85，页 171，2025）
errDRUGS
IF14.4
err2025-04-12
err0
PREAI
errLastoria, Diego Agustin Abelleyra; Keynes, Sophie; Hughes, Derralynn
err分享
err收藏
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-03-28
err0
errOAAI
errRevel-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
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err收藏
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (vol 143, 108608, 2024)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
errOAAI
errDiaz-Manera, Jordi; Hughes, Derralynn; Erdem-Ozdamar, Sevim; Tard, Celine; Behin, Anthony; Bouhour, Francoise; Davison, James; Hahn, Si Houn; Haack, Kristina An; Huynh-Ba, Olivier; Periquet, Magali; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; van der Ploeg, Ans T.
err分享
err收藏
Clinical assessment of disease severity in patients with Fabry disease treated with pegunigalsidase alfa: An integrated analysis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHughes, Derralynn; Linhart, Ales; Wallace, Eric L.; Wilcox, William R.; Whitley, Chester B.; Vujkovac, Bojan; Koulinska, Irene; Piotti, Giovanni; Chertkoff, Raul; Alon, Sari; Sakov, Anat; Pisani, Antonio; Bernat, John A.
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Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHughes, Derralynn; Wilcox, William; Hopkin, Robert J.; Ganesh, Jaya; Bernat, John; Goker-Alpan, Ozlem; Nicholls, Kathy; Deegan, Patrick; Pahl, Madeleine; Whitley, Chester B.; Chen, Michael; Cao, Liching; Schreeb, Katharina H.
err分享
err收藏
Audit of patients screened for lysosomal disorders at the Royal Free London Hospital
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errEbrahim, Hatim Y.; Ramaswami, Uma; Hughes, Derralynn A.
err分享
err收藏
Exploring the clinical impacts of genetic variants of unknown significance in Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errLavalle, Lucia; Martinez, David Moreno; Ramaswami, Uma; Hughes, Derralynn
err分享
err收藏
Co-design of a physical activity and sedentary behavior intervention for adults with Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGosling, Sarah; Kilbride, Cherry; Mansfield, Louise; Hughes, Derralynn; Bailey, Daniel
err分享
err收藏
Bone mineral density improvements in velaglucerase alfa-treated patients with Gaucher disease: Real-world data from the Gaucher Outcome Survey (GOS)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errZimrana, Ari; Botha, Jaco; Eastellc, Richard; Ficicioglud, Can; Finkelmane, Richard D.; Frydmana, Dafna; Giraldof, Pilar; Goker-Alpang, Ozlem; Kishnanih, Priya S.; Laui, Heather A.; Ruhrman-Shaharj, Noa; Hughesk, Derralynn
err分享
err收藏

研究方向

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合作学者
合作期刊
A
Andrew J. Lees
H 指数: 165 · 论文数: 1.2K
W
William J. McKenna
H 指数: 162 · 论文数: 2.4K
N
Nicholas Wood
H 指数: 139 · 论文数: 1.1W
J
James Moon
H 指数: 138 · 论文数: 1.4K
P
Perry Elliott
H 指数: 137 · 论文数: 1.0K
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