Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases

by Sandra Brasil, Sandra Brasil, Cátia José Neves, Cátia José Neves, Tatiana Rijoff, Tatiana Rijoff, Marta Falcão, Gonçalo Valadão, Gonçalo Valadão, Gonçalo Valadão, Paula A. Videira, Paula A. Videira, Paula A. Videira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira
Published 2021-05-01

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

by Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira
Published 2018-11-01

CDG Therapies: From Bench to Bedside

by Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A. Videira, Eva Morava, Jaak Jaeken, Vanessa dos Reis Ferreira
Published 2018-04-01

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

by Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Sandra Brasil, Fernando M. Pimentel-Santos, Ruqaiah Altassan, Jaak Jaeken, Ana Rita Grosso, Vanessa dos Reis Ferreira, Paula A. Videira
Published 2020-07-01