Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. The purpose of the present study was to create a consensus ...

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the ...

There are 7000 identified rare diseases (RD) globally, and the definition of each RD varies from country to country. RD are often chronic, progressive, and frequently life-threatening. It is estimated that almost 400 million ...

There is increasing emphasis on the importance of practising evidence-based medicine. Randomized controlled trials are the standard way to assess the bene¢ts of an intervention, and observational studies are not ...

Objectives: Rare diseases patients in healthcare systems are subject to special considerations to be defined in public policy. This study aims to review existing studies that analyze public policy on rare diseases in Peru ...

Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5-5.9% of the population. They have psychosocial and economic impact on patients and societies, ...

Fabry disease (FD), like COVID-19, can affect multiple organs, including the lungs. Patients with FD are expected to develop severe COVID-19, due to involvement of not only the lungs but also the kidneys and the presence ...