Arquivo
PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY: UPDATING THE CLINICAL, METABOLIC AND MUTATIONAL LANDSCAPES IN A COHORT OF PORTUGUESE PATIENTS
Hana Pavlu-Pereira1, Maria João Silva1,2, Cristina Florindo1, Sílvia Sequeira3, Ana Cristina Ferreira3, Sofia Duarte3, Ana Luísa Rodrigues4, Patrícia Janeiro4, Anabela Oliveira5, Daniel Gomes5, Anabela Bandeira6, Esmeralda Martins6, Roseli Gomes7, Sérgia Soares7, Isabel Tavares de Almeida1,2, João B Vicente8, Isabel Rivera9,10