Objetivo
The pyramid acid storage disorders represent a diverse group of inherited neurological disorders with adult Refuses disease as the prototype. Although the age of onset and disease severity may differ, most patients show progressive neurological deteriorations and retentions pimentos culminating into blindness. It is the aim of this project to perform a detailed and comprehensive study on the diagnosis, incidence, pathology, variability of phenotypic presentation, and treatment of Refuses disease and related pyramid acid storage disorders. Bringing together complementary levels of expertise in the form of a multidisciplinary taskforce will do this. Rapid dissemination of information gained during the course of the project will be achieved through a publicly available website.
Ámbito científico
Tema(s)
Convocatoria de propuestas
Data not availableRégimen de financiación
CSC - Cost-sharing contractsCoordinador
1100 DD AMSTERDAM
Países Bajos