Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation

por Rosa, Joana, Fraga, Ana Beatriz, de Carvalho, Rita, Maia, Ana Lúcia, Rodrigues, Ana Luísa, Gomes, Maria Fernanda
Publicado 2018

Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)

por Martins, Luísa, Lourenço, Rita, Maia, Ana Lúcia, Maciel, Paula, Monteiro, Maria Isabel, Pacheco, Lucinda, Anselmo, João, César, Rui, Gomes, Maria Fernanda
Publicado 2015