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Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. Wu THY, et al. Among authors: jones sa. Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. Mol Genet Metab. 2024. PMID: 38458124 Free article.
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Puente-Ruiz N, Ellis I, Bregu M, Chen C, Church HJ, Tylee KL, Gladston S, Hackett R, Oldham A, Virk S, Hendriksz C, Morris AAM, Jones SA, Stepien KM. Puente-Ruiz N, et al. Among authors: jones sa. Mol Genet Metab Rep. 2023 Sep 27;37:101009. doi: 10.1016/j.ymgmr.2023.101009. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053939 Free PMC article.
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.
Broomfield A, Sims J, Mercer J, Hensman P, Ghosh A, Tylee K, Stepien KM, Oldham A, Prathivadi Bhayankaram N, Wynn R, Wright NB, Jones SA, Wilkinson S. Broomfield A, et al. Among authors: jones sa. Mol Genet Metab. 2021 Feb;132(2):94-99. doi: 10.1016/j.ymgme.2020.07.004. Epub 2020 Jul 21. Mol Genet Metab. 2021. PMID: 32713717
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: jones sa. 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
A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe.
Lum SH, Will A, Church HJ, Mercer J, Tylee KL, Poulton K, Odgen W, Lee H, Logan A, Coussons M, Khalid T, Bonney D, Rust S, Hiwarkar P, Jones SA, Wynn RF. Lum SH, et al. Among authors: jones sa. Blood Cell Ther. 2019 May 10;2(2):31-35. doi: 10.31547/bct-2018-012. eCollection 2019 May 10. Blood Cell Ther. 2019. PMID: 37885827 Free PMC article.
921 results