Keywords: Agalsidase Beta, Alpha Galactosidase, Adult, Article, Cardiomyopathy, Case Report, Disease Course, Enzyme Activity, Enzyme Replacement, Fabry Disease, Heart Left Ventricle Hypertrophy, Human, Nuclear Magnetic Resonance Imaging, Chest Pain, Disease Progression, Enzyme Replacement Therapy, Left Ventricular,
Affiliations: *** IBB - CNR ***
Department of Radiology, University Federico II, Napoli, Italy
Department of Nephrology, University Federico II, Napoli, Italy
References: Brady, R.O., Gal, A.E., Bradley, R.M., Martensson, E., Warshaw, A.L., Laster, L., Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency (1967) N Engl J Med, 276, pp. 1163-116
Desnick, R.J., Ioannou, Y.A., Eng, C.M., α-Galactosidase A deficiency: Fabry disease (2001) The Metabolic and Molecular Bases of Inherited Disease, pp. 3733-3774. , Scriver CR, Beaudet AL, Sly WS, editors. New York: McGraw-Hill
Linhart, A., Kampmann, C., Zamorano, J.L., Sunder-Plassmann, G., Beck, M., Mehta, A., Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey (2007) Eur Heart J, 28, pp. 1228-1235
MacDermot, K.D., Holmes, A., Miners, A.H., Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males (2001) J Med Genet, 38, pp. 750-760
Desnick, R.J., Brady, R., Barranger, J., Collins, A.J., Germain, D.P., Goldman, M., Fabry disease, an underecognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy (2003) Ann Intern Med, 138, pp. 338-346
Wilcox, W.R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G.E., Long term safety and efficacy of enzyme replacement therapy for Fabry disease (2004) Am J Hum Genet, 75, pp. 65-74
Imbriaco, M., Pisani, A., Spinelli, L., Cuocolo, A., Messalli, G., Capuano, E., Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective long-term cardiac magnetic resonance imaging study (2009) Heart, 95, pp. 1103-1107
Weidemann, F., Niemann, M., Breunig, F., Herrmann, S., Beer, M., Störk, S., Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy. Evidence for a better outcome with early treatment (2009) Circulation, 119, pp. 524-529
Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L., Laster, L., Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency (1967) N Engl J Med, 276, pp. 1163-116
Desnick, R. J., Ioannou, Y. A., Eng, C. M., -Galactosidase A deficiency: Fabry disease (2001) The Metabolic and Molecular Bases of Inherited Disease, pp. 3733-3774. , Scriver CR, Beaudet AL, Sly WS, editors. New York: McGraw-Hill
MacDermot, K. D., Holmes, A., Miners, A. H., Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males (2001) J Med Genet, 38, pp. 750-760
Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., Goldman, M., Fabry disease, an underecognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy (2003) Ann Intern Med, 138, pp. 338-346
Wilcox, W. R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G. E., Long term safety and efficacy of enzyme replacement therapy for Fabry disease (2004) Am J Hum Genet, 75, pp. 65-74
Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression