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Page 1
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: ramaswami u. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Initial report from the Hunter Outcome Survey.
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators. Wraith JE, et al. Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. Genet Med. 2008. PMID: 18580692
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. Among authors: ramaswami u. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960
Age adjusting severity scores for Anderson-Fabry disease.
Hughes DA, Ramaswami U, Barba Romero MÁ, Deegan P; FOS Investigators. Hughes DA, et al. Among authors: ramaswami u. Mol Genet Metab. 2010 Oct-Nov;101(2-3):219-27. doi: 10.1016/j.ymgme.2010.06.002. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20691627
Fabry disease: a review of current management strategies.
Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP. Mehta A, et al. Among authors: ramaswami u. QJM. 2010 Sep;103(9):641-59. doi: 10.1093/qjmed/hcq117. Epub 2010 Jul 21. QJM. 2010. PMID: 20660166 Review.
115 results