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Bibliografia
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Sessa A, Meroni M, Battini G : Eterogeneità fenotipica della malattia di Fabry: malattia rara?. Giornale Italiano di Nefrolgia 1997; vol.14 n.4:195-201
Meroni M., Sessa A, Battini G, Tazzari S, Torri Tarelli L: Kidney involvement in Anderson-Fabry disease. Contrib to Nephrol 1997; vol 122:178-184 Eng
C.M, Resnick D.J, Silverman L.A, Niehaus D.J, Astrin K.H, Desnick R.J : Nature and frequency of mutations in the a-galactosidase A activity gene that cause Fabry disease. A. J. Hum genet 1993; vol 53:1186-1197
Desnick R.J, Joannou Y.A, Eng C.M: a-galactosidase A deficiency Fabry disease. The metabolic and molecular bases of inherited disease. 7th ed New York:Mc Graw Hill 1995:2741-2784
Meroni M, Spini C, Tazzari S, Sessa A, et al: Isolated glomerular proteinuria as the only clinical manifestation of Fabry’s disease in an adult male. Nephrol Dial Trasnsplant 1997; vol 12:221-223
Nakao S, Takenaka T, Maeda M, Kodama C. et al: An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. NEJM 1995; vol 333:288-293
Chimenti C, Ricci R, Pieroni M, Natale L, Russo M, Frustaci A : Cardiac variant of Fabry’s disease mimiching hypertrophic cardiomyopathy. Cardiologia 1999; vol 44:469-473
Shiffmann
R, et al: Infusion of a-galactosidase A reduces tissue globotriaosylceramide
storage in patients with Fabry’s disease. PNAS 2000;vol 97:365-370 |
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