Showing results 9 to 20 of 20
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| Issue Date | Title | Author(s) | Type | Access Type |
| Oct-2014 | Inborn errors of metabolism and expanded newborn screening in Portugal: 2004-2014 | Marcão, Ana; Vilarinho, Laura; Sousa, Carmen; Fonseca, Helena; Lopes, Lurdes; Rocha, Hugo | conferenceObject |  |
| Nov-2011 | MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small area of Douro high lands | Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, Laura | conferenceObject | |
| Jul-2009 | Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations | Encarnação, Marisa; Lacerda, Lúcia; Costa, Roberto; Prata, Maria João; Coutinho, Maria Francisca; Ribeiro, Helena; Lopes, Lurdes; Pineda, M.; Ignatius, J.; Galvez, H.; Mustonen, A.; Vieira, P.; Lima, Margarida Reis; Alves, Sandra | article |  |
| Aug-2008 | Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. | Coutinho, Maria Francisca; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Lopes, Lurdes; Ferreira, Célia; Alves, Sandra | article | |
| 7-Feb-2009 | Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking | Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Lacerda, Lúcia; Bargal, Ruth; Filocammo, Mirella; Raas-Rothschild; Tappino, Barbara; Laprise, Cathrine; Sirois-Gagnon, D.; Costa, Roberto; Ribeiro, Helena; Lopes, Lurdes; Alves, Sandra | conferenceObject | |
| 2007 | Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIIC | Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra | conferenceObject | |
| Feb-2008 | Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIIC | Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra | conferenceObject | |
| Oct-2014 | Preliminary results of the pilot study for Cystic Fibrosis newborn screening in Portugal | Marcão, Ana; Lopes, Lurdes; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Barreto, Celeste; Vilarinho, Laura | conferenceObject | |
| 2011 | Prenatal diagnosis in severe cases: a new gain in Portuguese neonatal | Sousa, Carmen; Nogueira, Célia; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Leão, Elisa; Garcia, Juliette; Couceiro, Ana Bela; Vilarinho, Laura | conferenceObject | |
| Nov-2012 | Programa Nacional de Diagnóstico Precoce em Portugal- Casuística de 2011 | Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, Laura | conferenceObject | |
| Nov-2015 | Programa Nacional de Diagnóstico Precoce: 35 anos de atividade (1979-2014) | Vilarinho, Laura; Rocha, Hugo; Sousa, Carmen; Fonseca, Helena; Lopes, Lurdes; Carvalho, Ivone; Marcão, Ana; Pinho e Costa, Paulo | article | |
| 12-May-2016 | Rastreio neonatal dos défices do ciclo da ureia em Portugal | Rocha, Hugo; Sousa, Carmen; Fonseca, Helena; Marcão, Ana; Lopes, Lurdes; Carvalho, Ivone; Vilarinho, Laura | article | |
