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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. Muenzer J, et al. Among authors: rust s. J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39252529
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. van der Lee JH, et al. Among authors: rust s. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28501294 Free article.
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: rust s. 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
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E. van der Lee JH, et al. Among authors: rust s. Mol Genet Metab. 2020 Sep-Oct;131(1-2):181-196. doi: 10.1016/j.ymgme.2020.08.007. Epub 2020 Aug 31. Mol Genet Metab. 2020. PMID: 32917509 Free article.
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, Hepburn M, Tylee K, Vaz FM, Vail A, Wijburg F, O'Leary C, Parker H, Wraith JE, Bigger BW, Jones SA. Ghosh A, et al. Among authors: rust s. J Inherit Metab Dis. 2021 Sep;44(5):1248-1262. doi: 10.1002/jimd.12407. Epub 2021 Jun 13. J Inherit Metab Dis. 2021. PMID: 34047372 Clinical Trial.
247 results