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Author/Creator Coelho, Ana I.

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
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia. Issue 4 (27th May 2022)

Authors:
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
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
748
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish. Issue 5 (5th June 2020)

Authors:
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
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
994
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. Issue 3 (14th January 2020)

Authors:
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
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 3(2020)
Page Start:
392
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗