Showing results 10 to 28 of 28
< previous
| Issue Date | Title | Author(s) | Type | Access Type |
| 23-Feb-2010 | Four years of expanded newborn screening in Portugal with tandem mass spectrometry | Vilarinho, Laura; Rocha, Hugo; Sousa, Carmen; Marcão, Ana; Fonseca, Helena; Bogas, Mário; Osório, Rui Vaz | article |  |
| 12-Mar-2013 | Genética e cérebro na "fábrica de perguntas" | Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, Liliana | other |  |
| 19-Mar-2015 | Genotype/phenotype correlation in Glycogen Storage Disease type IX | Rocha, Hugo; Lopes, Altina; Rodrigues, Esmeralda; Silva, Ermelinda; Trindade, Eunice; Vaio, Francisco; Souza, Carolina; Leão, Elisa; Vilarinho, Laura | conferenceObject | |
| 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 | |
| Dec-2013 | Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene | Antunes, Antonio; Nogueira, Célia; Rocha, Hugo; Vilarinho, Laura; Evangelista, Teresinha | article | |
| 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 | |
| 19-Mar-2015 | McArdle disease: mutational spectrum of Portuguese patients | Rocha, Hugo; Lopes, Altina; Soares, Gabriela; Negrão, Luis; Coelho, Teresa; Chorão, Rui; Lourenço, Teresa; Vilarinho, Laura | conferenceObject | |
| 2014 | Mitochondrial dysfunction in fatty acid β-oxidation disorders | Rocha, Hugo | doctoralThesis |  |
| Nov-2012 | Molecular characterization of Methylmalonyl CoA mutase deficiency in patients identified through newborn screening | Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Lopes, Maria de Lurdes; Rocha, Hugo; Vilarinho, Laura | conferenceObject | |
| 10-Jul-2013 | Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency | Couce, M.L.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Bueno, M.A.; Delgado-Pecellín, C.; Castiñeiras, D.E.; Cocho, J.A.; García-Villoria, J.; Ribes, A.; Fraga, J.M.; Rocha, Hugo | article | |
| 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 | |
| Mar-2015 | Prevalência ao nascimento dos défices da β-oxidação mitocondrial dos ácidos gordos na Península Ibérica | Rocha, Hugo; Castiñeiras, Daisy; Delgado, Carmen; Egea, José; Yahyaoui, Raquel; González, Yolanda; Conde, Manuel; González, Inmaculada; Rueda, Inmaculada; Rello, Luis; Vilarinho, Laura; Cocho, José | article | |
| 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 | |
| 28-Mar-2012 | A Rare Disease Patient Manager | Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José | conferenceObject | |
| 28-Mar-2012 | A Rare Disease Patient Manager | Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José | conferenceObject | |
| 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 | |
| 19-Mar-2015 | Two cases of late-onset Argininosuccinic aciduria with normal results at newborn screening | Marcão, Ana; Fonseca, Helena; Sousa, Carmen; Rocha, Hugo; Silva, Francisco; Vilarinho, Laura | conferenceObject | |
