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Uma Ramaswami
Uma Ramaswami
Royal Free London NHS Foundation Trust, UCL Partners
Dirección de correo verificada de nhs.net
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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
7362006
Statins for children with familial hypercholesterolemia
A Vuorio, J Kuoppala, PT Kovanen, SE Humphries, S Tonstad, ...
Cochrane Database of Systematic Reviews, 2017
4532017
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
3952015
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
3462006
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
3062004
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
2992018
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
2932003
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
2922010
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
2602011
Multidisciplinary management of Hunter syndrome
J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ...
Pediatrics 124 (6), e1228-e1239, 2009
2522009
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
2411997
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
2262007
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
2112017
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
2032011
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
1832009
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
1562015
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
1452019
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
1442007
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
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia
GF Watts, SS Gidding, RA Hegele, FJ Raal, AC Sturm, LK Jones, ...
Nature Reviews Cardiology 20 (12), 845-869, 2023
1242023
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