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Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.
Baruteau J, Hargreaves I, Krywawych S, Chalasani A, Land JM, Davison JE, Kwok MK, Christov G, Karimova A, Ashworth M, Anderson G, Prunty H, Rahman S, Grünewald S. Baruteau J, et al. Among authors: davison je. Mitochondrion. 2014 Jul;17:150-6. doi: 10.1016/j.mito.2014.07.001. Epub 2014 Jul 8. Mitochondrion. 2014. PMID: 25010387
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: davison j. 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: davison je. 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.
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: davison j. 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
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Cleary M, Davison J, Gould R, Geberhiwot T, Hughes D, Mercer J, Morrison A, Murphy E, Santra S, Jarrett J, Mukherjee S, Stepien KM. Cleary M, et al. Among authors: davison j. Orphanet J Rare Dis. 2021 Jan 21;16(1):38. doi: 10.1186/s13023-021-01675-x. Orphanet J Rare Dis. 2021. PMID: 33478511 Free PMC article.
977 results