Autoimmune alternating hyper- and hypo-thyroidism: a rare condition in pediatrics

por Martins, Luísa Correia, Coutinho, Ana Rita, Jerónimo, Mónica, Caetano, Joana Serra, Cardoso, Rita, Dinis, Isabel, Mirante, Alice
Publicado 2016

A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy

por Festas Silva, Diana, De Sousa Lages, Adriana, Caetano, Joana Serra, Cardoso, Rita, Dinis, Isabel, Gomes, Leonor, Paiva, Isabel, Mirante, Alice
Publicado 2021

A Novel Variant in the CASR Gene c.368T>Cp.(Leu123Ser) in a Case of Hypocalcemia Refractory to Standard Medical Therapy

por da Silva, Diana Festas, Lages, Adriana De Sousa, Caetano, Joana Serra, Cardoso, Rita, Dinis, Isabel, Gomes, Leonor, Paiva, Isabel, Mirante, Alice
Publicado 2021

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period

por Vieira, Inês Henriques, Mourinho Bala, Nádia, Ramos, Fabiana, Dinis, Isabel, Cardoso, Rita, Caetano, Joana Serra, Rodrigues, Dírcea, Paiva, Isabel, Mirante, Alice
Publicado 2022