1. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. Issue 1 (8th June 2013) Authors: Coelho, Ana I.; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; Paiva, Sandra; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Cardoso, M. Teresa; Ferreira, Elena; Sequeira, Sílvia; Leite, Margarida; Silva, Maria João; de Almeida, Isabel Tav... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗