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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: vijay 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
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: vijay s. 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: vijay s. 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
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: vijay s. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Oculomotor abnormalities in children with Niemann-Pick type C.
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A. Blundell J, et al. Among authors: vijay s. Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16. Mol Genet Metab. 2018. PMID: 29191430
How to use a controlled fast to investigate hypoglycaemia.
Sreekantam S, Preece MA, Vijay S, Raiman J, Santra S. Sreekantam S, et al. Among authors: vijay s. Arch Dis Child Educ Pract Ed. 2017 Feb;102(1):28-36. doi: 10.1136/archdischild-2015-308702. Epub 2016 Aug 24. Arch Dis Child Educ Pract Ed. 2017. PMID: 27557839 Review.
236 results