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Uma Ramaswami
Uma Ramaswami
Royal Free London NHS Foundation Trust, UCL Partners
在 nhs.net 的电子邮件经过验证
标题
引用次数
引用次数
年份
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, ...
Genetics in medicine 8 (8), 465-473, 2006
7162006
Statins for children with familial hypercholesterolemia
A Vuorio, J Kuoppala, PT Kovanen, SE Humphries, S Tonstad, ...
Cochrane Database of Systematic Reviews, 2017
4302017
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ...
Orphanet journal of rare diseases 10, 1-10, 2015
3672015
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
U Ramaswami, C Whybra, R Parini, G Pintos‐Morell, A Mehta, ...
Acta paediatrica 95 (1), 86-92, 2006
3332006
Fabry disease: overall effects of agalsidase alfa treatment
M Beck, R Ricci, U Widmer, F Dehout, AG De Lorenzo, C Kampmann, ...
European journal of clinical investigation 34 (12), 838-844, 2004
3022004
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
M Ries, U Ramaswami, R Parini, B Lindblad, C Whybra, I Willers, A Gal, ...
European journal of pediatrics 162, 767-772, 2003
2862003
Fabry disease: a review of current management strategies
A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ...
QJM: An International Journal of Medicine 103 (9), 641-659, 2010
2832010
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ...
Orphanet journal of rare diseases 13, 1-19, 2018
2802018
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ...
Genetics in Medicine 13 (2), 95-101, 2011
2482011
Multidisciplinary management of Hunter syndrome
J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ...
Pediatrics 124 (6), e1228-e1239, 2009
2422009
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
A Vellodi, EP Young, A Cooper, JE Wraith, B Winchester, C Meaney, ...
Archives of disease in childhood 76 (2), 92-99, 1997
2401997
Fabry disease and the skin: data from FOS, the Fabry outcome survey
CH Orteu, T Jansen, O Lidove, R Jaussaud, DA Hughes, G Pintos‐Morell, ...
British Journal of Dermatology 157 (2), 331-337, 2007
2132007
An activating mutation of AKT2 and human hypoglycemia
K Hussain, B Challis, N Rocha, F Payne, M Minic, A Thompson, A Daly, ...
Science 334 (6055), 474-474, 2011
1972011
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference
R Schiffmann, DA Hughes, GE Linthorst, A Ortiz, E Svarstad, DG Warnock, ...
Kidney international 91 (2), 284-293, 2017
1952017
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
SA Jones, Z Almássy, M Beck, K Burt, JT Clarke, R Giugliani, C Hendriksz, ...
Journal of inherited metabolic disease 32, 534-543, 2009
1732009
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis
M Beck, D Hughes, C Kampmann, S Larroque, A Mehta, G Pintos-Morell, ...
Molecular genetics and metabolism reports 3, 21-27, 2015
1492015
Glycogen storage disease type IX: high variability in clinical phenotype
NJ Beauchamp, A Dalton, U Ramaswami, H Niinikoski, K Mention, ...
Molecular genetics and metabolism 92 (1-2), 88-99, 2007
1372007
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
U Ramaswami, S Wendt, G Pintos‐Morell, R Parini, C Whybra, ...
Acta paediatrica 96 (1), 122-127, 2007
1312007
Proposed stages of myocardial phenotype development in Fabry disease
S Nordin, R Kozor, K Medina-Menacho, A Abdel-Gadir, S Baig, DM Sado, ...
JACC: Cardiovascular Imaging 12 (8 Part 2), 1673-1683, 2019
1212019
Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
D Te Vruchte, AO Speak, KL Wallom, N Al Eisa, DA Smith, CJ Hendriksz, ...
The Journal of clinical investigation 124 (3), 1320-1328, 2014
892014
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