Browsing by Author Rocha, Hugo

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Issue DateTitleAuthor(s)TypeAccess Type
22-Mar-20133- Methylcrotonyl-coa Carboxylase Deficiency: Biochemical and Molecular Studies in 36 PatientsFonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, LauraconferenceObjectopenAccess
Nov-20123-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phenotype?Fonseca, Helena; Bueno, Maria; Sousa, Carmen; Marcão, Ana; Lopes, Lurdes; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
Nov-20113-Methylcrotonylglycinuria: a new common mutation in the Portuguese population?Fonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, LauraconferenceObjectopenAccess
19-Mar-2015Adult-onset form in VLCAD deficiency: seven casesSousa, Carmen; Marcão, Ana; Nogueira, Célia; Fonseca, Helena; Rocha, Hugo; Silva, Carla; Guimas, Arlindo; Evangelista, Teresinha; Maré, Rui; Vilarinho, LauraconferenceObjectopenAccess
20-Feb-2015Aplicação dos marcadores IRT/PAP/IRT no rastreio neonatal da fibrose quísticaLopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
20-Feb-2015Aplicação dos marcadores IRT/PAP/IRT no rastreio neonatal da fibrose quísticaLopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
2014Birth Prevalence of Fatty Acid β-Oxidation Disorders in IberiaRocha, Hugo; Castiñeiras, Daisy; Delgado, Carmen; Egea, José; Yahyaoui, Raquel; González, Yolanda; Conde, Manuel; González, Inmaculada; Rueda, Inmaculada; Rello, Luis; Vilarinho, Laura; Cocho, JoséarticleembargoedAccess
27-Sep-2013Diagnóstico pré-natal: presente e futuroAmaral, Olga; Rocha, Hugo; Marques, Bárbara; Ferreira, Cristina; Duarte, AnalecturerestrictedAccess
17-Jan-2014Estudo piloto para o rastreio neonatal da fibrose quísticaLopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, LauraconferenceObjectopenAccess
23-Feb-2010Four years of expanded newborn screening in Portugal with tandem mass spectrometryVilarinho, Laura; Rocha, Hugo; Sousa, Carmen; Marcão, Ana; Fonseca, Helena; Bogas, Mário; Osório, Rui VazarticlerestrictedAccess
12-Mar-2013Genética e cérebro na "fábrica de perguntas"Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, LilianaotheropenAccess
19-Mar-2015Genotype/phenotype correlation in Glycogen Storage Disease type IXRocha, Hugo; Lopes, Altina; Rodrigues, Esmeralda; Silva, Ermelinda; Trindade, Eunice; Vaio, Francisco; Souza, Carolina; Leão, Elisa; Vilarinho, LauraconferenceObjectopenAccess
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