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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: stewart c. 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
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review.
Sreekantam S, Smith L, Stewart C, Kearney S, Lawson S, Raiman J, Vijay S, Santra S. Sreekantam S, et al. Among authors: stewart c. Mol Genet Metab Rep. 2022 May 31;32:100881. doi: 10.1016/j.ymgmr.2022.100881. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35663302 Free PMC article.
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E, Stewart C, Santra S, Vijay S, Champion M, Abulhoul L, Grunewald S, Chakrapani A, Cleary MA, Jones SA, Vellodi A. Broomfield A, et al. Among authors: stewart c. J Inherit Metab Dis. 2016 Mar;39(2):261-71. doi: 10.1007/s10545-015-9898-5. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497565
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Among authors: stewart c. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.
TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms.
Dykstra MM, Weskamp K, Gómez NB, Waksmacki J, Tank E, Glineburg MR, Snyder A, Pinarbasi E, Bekier M, Li X, Miller MR, Bai J, Shahzad S, Nedumaran N, Wieland C, Stewart C, Willey S, Grotewold N, McBride J, Moran JJ, Suryakumar AV, Lucas M, Tessier PM, Ward M, Todd PK, Barmada SJ. Dykstra MM, et al. Among authors: stewart c. Cell Rep. 2025 Jan 8;44(1):115113. doi: 10.1016/j.celrep.2024.115113. Online ahead of print. Cell Rep. 2025. PMID: 39792557
4,701 results