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U

Uma Ramaswami

university college london and royal free london nhs foundation trust

49H指数
226论文数
7.7K被引数
收录论文 131
发表时间
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Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement儿童和青少年家族性高胆固醇血症：欧洲动脉粥样硬化学会共识声明
errEuropean Heart Journal
IF35.6
err2026-05-25
err0
errOAAI
errAlbert Wiegman; Mafalda Bourbon; Tomas Freiberger; Samuel S Gidding; Susanne Greber-Platzer; Urh Groselj; Kirsten B Holven; Lisa C Hudgins; Steve E Humphries; Barbara A Hutten; Daiana Ibarretxe; Cristina Pederiva; Noel Peretti; Frederick J Raal; Uma Ramaswami; Veronika Sanin; Raul D Santos; Elisabeth Steinhagen-Thiessen; Gerald F Watts; Rosie Perkins; Marianne Benn; Christoph J Binder; Stefano Romeo; Jeanine E Roeters van Lennep; null
err分享
err收藏
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C2025年尼曼-皮克病C型的共识临床管理指南
errJournal of Inherited Metabolic Disease
IF3.8
err2026-04-26
err0
errOAAI
errTarekegn Hiwot; Forbes D. Porter; Tatiana Bremova-Ertl; Uma Ramaswami; Caroline Hastings; Bénédicte Héron; Justin Hopkin; Joella Melville; Hernan Amartino; Mireia del Toro; Federica Deodato; Fatih Ezgü; Paul Gissen; James B. Gibson; Can Ficicioglu; Roberto Giugliani; Orna Staretz-Chacham; Frances Platt; Nathalie Guffon; Kristina Julich; Nikola Kresojević; Anna Lehman; Yann Nadjar; Susanne A. Schneider; Simon Jones; Eugen Mengel; Michel Tchan; Mark Walterfang; Ozlem Goker-Alpan; Charlotte Dawson; Sandra Cowie; Toni Mathieson; Elizabeth Berry-Kravis; Marc C. Patterson
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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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Gaucher Disease—Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters戈谢病——溶酶体Gb1与血液学和生化参数的相关性
errMetabolites 2025, Vol. 15, Page 731
IF3.7
err2025-11-07
err0
errOAAI
errSimona D’Amore; Sneha Patel; Juniebel Cooke; Uma Ramaswami
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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
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Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype表观遗传机制在法布里病中的作用：一项主题分析，将差异甲基化谱和遗传修饰因子与疾病表型相联系
errCurrent Issues in Molecular Biology 2025, Vol. 47, Page 855
IF0
err2025-10-16
err0
errOAAI
errJatinder Singh; Paramala Santosh; Uma Ramaswami
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The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review溶血性Gb3在法布里病诊断与监测中的应用及性能：一项系统文献综述
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-06-01
err0
PREAI
errRamaswami, Uma; West, Michael L.; Tylee, Karen; Castillon, Genaro; Braun, Andreas; Ren, Megan; Doobaree, Indraraj Umesh; Howitt, Heena; Nowak, Albina
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Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice国际动脉粥样硬化学会关于改善家族性高胆固醇血症护理的实施策略：实施科学与实践中的下一步
errAMERICAN JOURNAL OF PREVENTIVE CARDIOLOGY
IF5.9
err2025-06-01
err0
errOAAI
errSarkies, Mitchell N.; Watts, Gerald F.; Gidding, Samuel S.; Santos, Raul D.; Hegele, Robert A.; Raal, Frederick J.; Sturm, Amy C.; Al-Rasadi, Khalid; Blom, Dirk J.; Daccord, Magdalena; Ferranti, Sarah D. de; Folco, Emanuela; Libby, Peter; Mata, Pedro; Nawawi, Hapizah M.; Ramaswami, Uma; Ray, Kausik K.; Yamashita, Shizuya; Pang, Jing; Thompson, Gilbert R.; Jones, Laney K.
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Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE , a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
errOAAI
errRamaswami, Uma; Font-Montgomery, Esperanza; Goker-Alpan, Ozlem; Ortiz, Damara; Sanchez-Valle, Amarilis; Whitley, Chester B.; Wilcox, William R.; Jiang, Hai; Lawson, Lee Ann; Vosk, Jennie; Yang, Haichen; Hopkin, Robert J.
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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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Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errRamaswami, Uma; Font-Montgomery, Esperanza E.; Goker-Alpan, Ozlem; Ortiz, Damara; Sanchez-Valle, Amarilis; Whitley, Chester B.; Wilcox, William R.; Jiang, Hai; Lawson, Lee Ann; Vosk, Jennie; Yang, Haichen; Hopkin, Robert J.
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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.
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Clinical depression and impact on patients with lysosomal diseases (LDs): Service evaluation from a specialist centre using the Beck's Depression Inventory (BDI-II)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errJoseph, Deepthy P.; Cooke, Juniebel; Singh, Maninder; Patel, Sneha; Ramaswami, Uma
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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
Transition in lysosomal diseases: Results of a UK patient and carer survey
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errThomas, Sophie; Morris, Elizabeth; Ramaswami, Uma; Stepien, Karolina; Mathieson, Toni; Brownnutt, Elizabeth C.
err分享
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Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials
errATHEROSCLEROSIS
IF5.7
err2025-02-01
err0
errOAAI
errLlewellyn, Alexis; Simmonds, Mark; Marshall, David; Harden, Melissa; Woods, Beth; Humphries, Steve E.; Ramaswami, Uma; Priestley-Barnham, Lorraine; Fisher, Mark; Tata, Laila J.; Qureshi, Nadeem
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err收藏
Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHopkin, Robert J.; Sanchez-Valle, Amarilis; Font-Montgomery, Esperanza E.; Goker-Alpan, Ozlem; Ortiz, Damara; Whitley, chester B.; Wilcox, William R.; Jiang, Hai; Lawson, Lee Ann; Vosk, Jennie; Yang, Haichen; Ramaswami, Uma
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Gaucher disease-correlation of lyso-Gb1 with biochemical therapeutic goals
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errD'Amore, Simona; Cooke, Juniebel; Patel, Sneha; Ramaswami, Uma
err分享
err收藏
National peer-review of the transition process in lysosomal disease centers in England
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMorris, Elizabeth; Thomas, Sophie; Stepien, Karolina; Hughes, Derralynn; Steeds, Sarah; Ramaswami, Uma
err分享
err收藏
Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBremova-Ertl, Tatiana; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Mengel, Eugen; Arash-Kaps, Laila; Mendoz, Grecia; Park, Julien H.; Ramaswami, Uma; Martakis, Kyriakos; Brands, Marion
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研究方向

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合作学者
合作期刊
P
Peter Libby
H 指数: 227 · 论文数: 1.3K
S
Steve E. Humphries
H 指数: 140 · 论文数: 1.5K
J
James Moon
H 指数: 138 · 论文数: 1.4K
R
Randall V. Martin
H 指数: 137 · 论文数: 802
P
Perry Elliott
H 指数: 137 · 论文数: 1.0K
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