Educar para a cidadania - Literacia do séc. XXI para crianças<br>Educating for citizenship - Literacy of the 21st century for children

by Isaura Ribeiro
Published 2018-12-01

FABRY DISEASE IN PORTUGAL – INSIGHTS FROM THE MALE PATIENTS

by Ana Rita Soares, Francisco Laranjeira, Carla Caseiro, Isaura Ribeiro, Elisabete Silva, Eugénia Pinto, Célia Ferreira, Sónia Rocha, Ana Fortuna, Dulce Quelhas, Lúcia Lacerda
Published 2016-12-01

PORTUGUESE CASUISTIC OF MUCOPOLYSACCHARIDOSES WITH CARDIAC MANIFESTATIONS

by Carla Caseiro, Isaura Ribeiro, Fernanda Pinto, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Célia Ferreira, Domingos Sousa, Helena Ribeiro, Dulce Quelhas, Francisco Laranjeira, Lúcia Lacerda
Published 2016-12-01

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

by Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves
Published 2020-11-01