Browsing by Author Rocha, Hugo

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Showing results 13 to 28 of 28 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
Oct-2014Inborn errors of metabolism and expanded newborn screening in Portugal: 2004-2014Marcão, Ana; Vilarinho, Laura; Sousa, Carmen; Fonseca, Helena; Lopes, Lurdes; Rocha, HugoconferenceObjectopenAccess
Dec-2013Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL geneAntunes, Antonio; Nogueira, Célia; Rocha, Hugo; Vilarinho, Laura; Evangelista, TeresinhaarticlerestrictedAccess
Nov-2011MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small area of Douro high landsMarcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, LauraconferenceObjectopenAccess
19-Mar-2015McArdle disease: mutational spectrum of Portuguese patientsRocha, Hugo; Lopes, Altina; Soares, Gabriela; Negrão, Luis; Coelho, Teresa; Chorão, Rui; Lourenço, Teresa; Vilarinho, LauraconferenceObjectopenAccess
2014Mitochondrial dysfunction in fatty acid β-oxidation disordersRocha, HugodoctoralThesisembargoedAccess
Nov-2012Molecular characterization of Methylmalonyl CoA mutase deficiency in patients identified through newborn screeningMarcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Lopes, Maria de Lurdes; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
10-Jul-2013Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiencyCouce, 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, HugoarticleopenAccess
Oct-2014Preliminary results of the pilot study for Cystic Fibrosis newborn screening in PortugalMarcão, Ana; Lopes, Lurdes; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Barreto, Celeste; Vilarinho, LauraconferenceObjectopenAccess
2011Prenatal diagnosis in severe cases: a new gain in Portuguese neonatalSousa, Carmen; Nogueira, Célia; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Leão, Elisa; Garcia, Juliette; Couceiro, Ana Bela; Vilarinho, LauraconferenceObjectopenAccess
Mar-2015Prevalência ao nascimento dos défices da β-oxidação mitocondrial dos ácidos gordos na Península IbéricaRocha, Hugo; Castiñeiras, Daisy; Delgado, Carmen; Egea, José; Yahyaoui, Raquel; González, Yolanda; Conde, Manuel; González, Inmaculada; Rueda, Inmaculada; Rello, Luis; Vilarinho, Laura; Cocho, JoséarticleopenAccess
Nov-2012Programa Nacional de Diagnóstico Precoce em Portugal- Casuística de 2011Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
Nov-2015Programa 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, PauloarticleopenAccess
28-Mar-2012A Rare Disease Patient ManagerLopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, JoséconferenceObjectopenAccess
28-Mar-2012A Rare Disease Patient ManagerLopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, JoséconferenceObjectopenAccess
12-May-2016Rastreio neonatal dos défices do ciclo da ureia em PortugalRocha, Hugo; Sousa, Carmen; Fonseca, Helena; Marcão, Ana; Lopes, Lurdes; Carvalho, Ivone; Vilarinho, LauraarticleopenAccess
19-Mar-2015Two cases of late-onset Argininosuccinic aciduria with normal results at newborn screeningMarcão, Ana; Fonseca, Helena; Sousa, Carmen; Rocha, Hugo; Silva, Francisco; Vilarinho, LauraconferenceObjectopenAccess