3 documents found, page 1 of 1
Concepts for the development of person-centred, digitally-enabled, Artificial I...
Bousquet, J; Schünemann, HJ; Sousa-Pinto, B; Zuberbier, T; Togias, A; Samolinski, B; Bedbrook, A; Czarlewski, W; Hofmann-Apitius, M; Litynska, JThe traditional healthcare model is focused on diseases (medicine and natural science) and does not acknowledge patients' resources and abilities to be experts in their own life based on their lived experiences. Improving healthcare safety, quality and coordination, as well as quality of life, are important aims in the care of patients with chronic conditions. Person-centred care needs to ensure that people's v...
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...