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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Marcão, Ana
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) | | Nov-2012 | 3-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phenotype? | Fonseca, Helena; Bueno, Maria; Sousa, Carmen; Marcão, Ana; Lopes, Lurdes; Rocha, Hugo; Vilarinho, Laura |
| Nov-2011 | 3-Methylcrotonylglycinuria: a new common mutation in the Portuguese population? | Fonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, Laura |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Showing results 1 to 7 of 7
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