2 documents found, page 1 of 1
Fabry Disease Caused by the GLA p.Phe113Leu (p.F113L) Variant: Natural History ...
Oliveira, J; Nowak, A; Barbey, F; Torres, M; Nunes, J; Teixeira-e-Costa, F; Carvalho, F; Sampaio, S; Tavares, I; Pereira, O; Soares, A; Carmona, CBackground, aims and methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also prevalent in the Italian population, where two boys carrying the GLA Leu113...
The effect of enzyme replacement therapy on clinical outcomes in male patients ...
Germain, DP; Elliott, PM; Falissard, B; Fomin, VV; Hilz, MJ; Jovanovic, A; Kantola, I; Linhart, A; Mignani, R; Namdar, M; Nowak, A; Oliveira, JPBackground: Enzyme replacement therapy (ERT) with recombinant human a-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original art...