3 documents found, page 1 of 1
Assessment of a targeted resequencing assay as a support tool in the diagnosis ...
Fernández-Marmiesse, A.; Morey, M.; Pineda, M.; Eiris, J.; Couce, M.; Castro-Gago, M.; Fraga, J.; Lacerda, L.; Gouveia, S.; Pérez-Poyato, M.BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Develo...
Complete Specification of APIs and Protocols for the MAFTIA Middleware
Armstrong, J.; Cachin, C.; Correia, Miguel; Costa, A.; Miranda, Hugo; Neves, Nuno Ferreira; Neves, Nuno M.; Poritz, J. A.; Randell, B.; Lung, Lau CheukThis document describes the complete specification of the APIs and Protocols for the MAFTIA Middleware. The architecture of the middleware subsystem has been described in a previous document, where the several modules and services were introduced: Activity Services; Communication Services; Network Abstraction; Trusted and Untrusted Components. The purpose of the present document is to make concrete the function...
First Specification of APIs and Protocols for the MAFTIA Middleware
Armstrong, J.; Cachin, C.; Correia, Miguel; Costa, A.; Miranda, Hugo; Neves, Nuno Ferreira; Neves, Nuno M.; Poritz, J. A.; Randell, B.; Lung, Lau CheukThis document describes the first specification of the APIs and Protocols for the MAFTIA Middleware. The architecture of the middleware subsystem has been described in a previous document, where the several modules and services were introduced: Activity Services; Communication Services; Network Abstraction; Trusted and Untrusted Components. The purpose of the present document is to make concrete the functionali...