Browsing by Author Marcão, Ana

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 11 to 21 of 21 < 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
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
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
Dec-2014NBS in Portugal: results from a ten years experience with mass spectrometryMarcão, AnalectureopenAccess
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
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
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
Mar-2014Rastreio Neonatal: novas tecnologias e novas patologiasMarcão, AnaconferenceObjectopenAccess
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