Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review

por Inácio, Isabel, Serra-Caetano, Joana, Cardoso, Rita, Dinis, Isabel, Mirante, Alice
Publicado 2023

Autoimmune Primary Adrenal Insufficiency in Children

por Mourinho Bala, Nádia, Gonçalves, Raquel S., Serra Caetano, Joana, Cardoso, Rita, Dinis, Isabel, Mirante, Alice
Publicado 2022

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature

por Lages, Adriana de Sousa, Vale, Beatriz, Oliveira, Patrícia, Cardoso, Rita, Dinis, Isabel, Carrilho, Francisco, Mirante, Alice
Publicado 2019

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

Effect of ultra-rapid insulin aspart on glycemic control in children with type 1 diabetes: the experience of a Portuguese tertiary centre

por Costa, Cláudia, Linhares, Maria Inês, Bastos, Filipa, Cardoso, Rita, Dinis, Isabel, Santos, Ana Paula, Mirante, Alice, Serra-Caetano, Joana
Publicado 2022

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

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

por Alvelos, Maria I., Gonçalves, Catarina I., Coutinho, Eduarda, Almeida, Joana T., Bastos, Margarida, Sampaio, Maria L., Melo, Miguel, Martins, Sofia, Dinis, Isabel, Mirante, Alice, Gomes, Leonor, Saraiva, Joana, Pereira, Bernardo D., Gama-de-Sousa, Susana, Moreno, Carolina, Guelho, Daniela, Martins, Diana, Baptista, Carla, Barros, Luísa, Ventura, Mara, Gomes, Maria M., Lemos, Manuel C.
Publicado 2020