Current and Future Treatments for Classic Galactosemia

por Delnoy, Britt, Coelho, Ana I., Rubio-Gozalbo, Maria Estela
Publicado 2021

Sweet and sour: an update on classic galactosemia

por Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Publicado 2017

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 2014

Impaired fertility and motor function in a zebrafish model for classic galactosemia

por Vanoevelen, Jo M., van Erven, Britt, Bierau, Jörgen, Huang, Xiaoping, Berry, Gerard T., Vos, Rein, Coelho, Ana I., Rubio-Gozalbo, M. Estela
Publicado 2017

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

por Haskovic, Minela, Coelho, Ana I., Lindhout, Martijn, Zijlstra, Fokje, Veizaj, Raisa, Vos, Rein, Vanoevelen, Jo M., Bierau, Jörgen, Lefeber, Dirk J., Rubio‐Gozalbo, M. Estela
Publicado 2020

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

por Haskovic, Minela, Coelho, Ana I., Bierau, Jörgen, Vanoevelen, Jo M., Steinbusch, Laura K. M., Zimmermann, Luc J. I., Villamor‐Martinez, Eduardo, Berry, Gerard T., Rubio‐Gozalbo, M. Estela
Publicado 2020

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia

por Delnoy, Britt, Haskovic, Minela, Vanoevelen, Jo, Steinbusch, Laura K. M., Vos, Esther Naomi, Knoops, Kèvin, Zimmermann, Luc J. I., Noga, Marek, Lefeber, Dirk J., Martini, Paolo G. V., Coelho, Ana I., Rubio‐Gozalbo, Maria Estela
Publicado 2022

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

por Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J. C., Mackinnon, Sabrina, Yue, Wyatt W., Peake, Roy W. A., Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T., Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M. Estela, Coelho, Ana I.
Publicado 2018