4Schiffmann R,Kopp J,Austin H,et al.Efficacy and safety of enzyme replacement therapy in Fabry disease demonstrated by a double-blind placebo-controlled trial[abstract][J].Am J Hum Genet,2000,67(2):38.
5[3]Murata R,Takatsu H,Noda T,et al.Fifteen-year follow-up of a heterozygous fabry's disease patient associated with pre-excitation syndrome[J].Intern Med,1999,38(1):476-481.
6[4]Elleder M,Ledvinova J,Vosmik F,et al.An atypical ultrastrustural pattern in Fabry's disease:a study on its nature and incidence in 7 cases[J].Ultrastruct Pathol,1990,14:467-474.
7[5]Marguery MC,Giordano F,Parant M,et al.Fabry's disease:heterozygous form of different expression in two monozygous twin sisters[J].Dermatology,1993,187:9-15.
8[6]Novo FJ,Kruszewski A,MacDermot KD,et al.Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion[J].Nucleic Acids Res,1995,23(1):2636-2640.
