Sweet and sour: an update on classic galactosemia

Por Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Publicado no J Inherit Metab Dis (2017)

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

Por Coelho, Ana I., Trabuco, Matilde, Silva, Maria João, de Almeida, Isabel Tavares, Leandro, Paula, Rivera, Isabel, Vicente, João B.
Publicado no JIMD Rep (2015)

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

Por Coelho, Ana I, Trabuco, Matilde, Ramos, Ruben, Silva, Maria João, Tavares de Almeida, Isabel, Leandro, Paula, Rivera, Isabel, Vicente, João B
Publicado no Mol Genet Genomic Med (2014)

Functional correction by antisense therapy of a splicing mutation in the GALT gene

Por Coelho, Ana I, Lourenço, Sílvia, Trabuco, Matilde, Silva, Maria João, Oliveira, Anabela, Gaspar, Ana, Diogo, Luísa, Tavares de Almeida, Isabel, Vicente, João B, Rivera, Isabel
Publicado no Eur J Hum Genet (2015)