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cardiomyopathy due to Fabry's disease N Engl J Med 1982;307(15):926–928 174 Nakao S, Takenaka T, Maeda M, et al An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 1995;333(5):288–293 175 von Scheidt W, Eng CM, Fitzmaurice TF, et al An atypical variant of Fabry's disease with manifestations confined to the myocardium N Engl J Med 1991;324(6):395–399 176 Wilson HC, Hopkin RJ, Madueme PC, et al Arrhythmia and clinical cardiac findings in children with Anderson-fabry disease Am J Cardiol 2017 177 Shah JS, Hughes DA, Sachdev B, et al Prevalence and clinical significance of cardiac arrhythmia in Anderson-fabry disease Am J Cardiol 2005;96(6):842–846 178 Patel V, O'Mahony C, Hughes D, et al Clinical and genetic predictors of major cardiac events in patients with Anderson-fabry disease Heart 2015;101(12):961–966 179 Hopkin RJ, Bissler J, Banikazemi M, et al Characterization of fabry disease in 352 pediatric patients in the fabry registry Pediatr Res 2008;64(5):550–555 180 Mehta A, Clarke JT, Giugliani R, et al Natural course of fabry disease: changing pattern of causes of death in FOS - fabry outcome survey J Med Genet 2009;46(8):548–552 181 Frustaci A, Chimenti C, Ricci R, et al Improvement in cardiac function in the cardiac variant of Fabry's disease with galactoseinfusion therapy N Engl J Med 2001;345(1):25–32 182 Tondel C, Bostad L, Larsen KK, et al Agalsidase benefits renal histology in young patients with fabry disease J Am Soc Nephrol 2013;24(1):137–148 183 Chimenti C, Pieroni M, Morgante E, et al Prevalence of fabry disease in female patients with late-onset hypertrophic cardiomyopathy Circulation 2004;110(9):1047–1053 184 Sachdev B, Takenaka T, Teraguchi H, et al Prevalence of Anderson-fabry disease in male patients with late onset hypertrophic cardiomyopathy Circulation 2002;105(12):1407–1411 185 Engel AG, Gomez MR, Seybold ME, Lambert EH The spectrum and diagnosis of acid maltase deficiency Neurology 1973;23(1):95–106 186 van den Hout HM, Hop W, van Diggelen OP, et al The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature Pediatrics 2003;112(2):332–340 187 Kishnani PS, Hwu WL, Mandel H, et al A retrospective, multinational, multicenter study on the natural history of infantile-onset pompe disease J Pediatr 2006;148(5):671–676 188 Laforet P, Nicolino M, Eymard PB, et al Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation Neurology 2000;55(8):1122–1128 189 Winkel LP, Hagemans ML, van Doorn PA, et al The natural course of non-classic Pompe's disease; a review of 225 published cases J Neurol 2005;252(8):875–884 190 Wokke JH, Ausems MG, van den Boogaard MJ, et al Genotype-phenotype correlation in adultonset acid maltase deficiency Ann Neurol 1995;38(3):450–454 191 Kishnani PS, Corzo D, Nicolino M, et al Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset pompe disease Neurology 2007;68(2):99–109 192 Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with pompe disease Pediatr Cardiol 2008;29(6):1033–1042 ... The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature Pediatrics 2003;112(2):332–340 187 Kishnani PS, Hwu WL, Mandel H, et al A retrospective, multinational, multicenter study
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