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

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

por Pavlu-Pereira, Hana, Silva, Maria João, Florindo, Cristina, Sequeira, Sílvia, Ferreira, Ana Cristina, Duarte, Sofia, Rodrigues, Ana Luísa, Janeiro, Patrícia, Oliveira, Anabela, Gomes, Daniel, Bandeira, Anabela, Martins, Esmeralda, Gomes, Roseli, Soares, Sérgia, Tavares de Almeida, Isabel, Vicente, João B., Rivera, Isabel
Publicado 2020