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Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C, Glamuzina E, Ruygrok P, Anderson LJ, Elliott P, Watkinson O, Occleshaw C, Abernathy M, Turner C, Kingston N, Murphy E, Oldfors A. Hedberg-Oldfors C, et al. Among authors: murphy e. J Inherit Metab Dis. 2017 Jan;40(1):139-149. doi: 10.1007/s10545-016-9978-1. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718144 Free PMC article.
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.
Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, Fontana M, Maestrini V, Flett AS, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Neubauer S, Elliott PM, Moon JC. Sado DM, et al. Among authors: murphy e. Circ Cardiovasc Imaging. 2013 May 1;6(3):392-8. doi: 10.1161/CIRCIMAGING.112.000070. Epub 2013 Apr 5. Circ Cardiovasc Imaging. 2013. PMID: 23564562
Management of aortic stenosis in mucopolysaccharidosis type I.
Felice T, Murphy E, Mullen MJ, Elliott PM. Felice T, et al. Among authors: murphy e. Int J Cardiol. 2014 Apr 1;172(3):e430-1. doi: 10.1016/j.ijcard.2013.12.233. Epub 2014 Jan 11. Int J Cardiol. 2014. PMID: 24502875 No abstract available.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. Among authors: murphy e. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
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: murphy e. 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.
3,699 results