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3,994 results

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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Moreno-Martinez D, et al. Among authors: hughes da. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. Mol Genet Metab. 2021. PMID: 33642210
Age adjusting severity scores for Anderson-Fabry disease.
Hughes DA, Ramaswami U, Barba Romero MÁ, Deegan P; FOS Investigators. Hughes DA, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):219-27. doi: 10.1016/j.ymgme.2010.06.002. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20691627
Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB; FOS Investigators. Orteu CH, et al. Among authors: hughes da. Br J Dermatol. 2007 Aug;157(2):331-7. doi: 10.1111/j.1365-2133.2007.08002.x. Epub 2007 Jun 15. Br J Dermatol. 2007. PMID: 17573884
Novel pathogenic mutations in the glucocerebrosidase locus.
Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J. Duran R, et al. Among authors: hughes d. Mol Genet Metab. 2012 Aug;106(4):495-7. doi: 10.1016/j.ymgme.2012.05.006. Epub 2012 May 18. Mol Genet Metab. 2012. PMID: 22658918 Free PMC article.
Quantitative Myocardial Perfusion in Fabry Disease.
Knott KD, Augusto JB, Nordin S, Kozor R, Camaioni C, Xue H, Hughes RK, Manisty C, Brown LAE, Kellman P, Ramaswami U, Hughes D, Plein S, Moon JC. Knott KD, et al. Among authors: hughes rk, hughes d. Circ Cardiovasc Imaging. 2019 Jul;12(7):e008872. doi: 10.1161/CIRCIMAGING.119.008872. Epub 2019 Jul 4. Circ Cardiovasc Imaging. 2019. PMID: 31269811 Free PMC article.
Natural history of Fabry disease in females in the Fabry Outcome Survey.
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Deegan PB, et al. Among authors: hughes da. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227523 Free PMC article.
3,994 results