Browsing by Author Vilarinho, Laura

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Issue DateTitleAuthor(s)TypeAccess Type
2012Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patientsEsteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, LauraarticlerestrictedAccess
Aug-2015Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid ImportanceVanzin, C.S.; Mescka, C.P.; Donida, B.; Hammerschimidt, T.G.; Ribas, G.S.; Kolling, J.; Scherer, E.B.; Vilarinho, Laura; Nogueira, Célia; Coitinho, A.S.; Wajner, M.; Wyse, A.T.; Vargas, C.R.articleembargoedAccess
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
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
Nov-2012Molecular investigation of pediatric Portuguese patients with sensorineural hearing lossNogueira, Célia; Coutinho, Miguel; Pereira, Cristina; Tessa, Alessandra; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
19-Mar-2015Molecular study is na importante tool in the confirmation of Inborn Errors of MetabolismFonseca, Helena; Souza, Carolina; Vairo, Fillipo; Vilarinho, LauraotheropenAccess
Mar-2013MPV17: fatal hepatocerebral presentationNogueira, Célia; Souza, Carolina; Husny, Antonette; Derks, Terry; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
23-Oct-2012MPV17: fatal hepatocerebral presentation in a Brazilian infantNogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, LauraarticlerestrictedAccess
1-Feb-2015Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaMarcão, Ana; Couce, María L.; Nogueira, Célia; Fonseca, Helena; Ferreira, Filipa; Fraga, José M.; Bóveda, M. Dolores; Vilarinho, LauraarticleopenAccess
Nov-2012A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduriaNogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Jun-2013A novel SUCLA2 mutation in a Portuguese patientNogueira, Célia; Garcia, Paula; Diogo, Luísa; Valongo, Carla; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
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
Sep-2012Programa Nacional de Diagnóstico Precoce: Relatório 2011Vilarinho, Laura; Vaz Osório, RuireportopenAccess
19-Nov-2013Programa Nacional de Diagnóstico Precoce: Relatório 2012Vilarinho, Laura; Pinho e Costa, Paulo; Diogo, LuísareportopenAccess
Oct-2013Programa Nacional de Diagnóstico Precoce: Relatório 2013Vilarinho, Laura; Pinho e Costa, Paulo; Diogo, LuísareportopenAccess