Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

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
2009	3-Metilcrotonilglcinuria: identificação e caracterização molecular	Mendo, Sónia; Vilarinho, Laura; Fonseca, Helena Susana Rodrigues Almeida
Nov-2012	Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese Family	Nogueira, Célia; Nesti, Claudia; Meschini, Maria Chiara; Carrozzo, Rosalba; Barros, Jose; Sá, Maria José; Azevedo, Luisa; Vilarinho, Laura; Santorelli, Filippo
2010	Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA	Azevedo, Olga; Vilarinho, Laura; Almeida, Filipa; Ferreira, Francisco; Guardado, Joana; Ferreira, Mariana; Lourenço, António; Medeiros, Rosa; Almeida, João
Nov-2012	Creatine deficiency syndromes: biochemical and molecular aspects	Valongo, Carla; Almeida, Lígia; Ramos, Altina; Salomons, Gajja; Jacobs, Cornelis; Vilarinho, Laura
May-2010	De Barsy syndrome and ATP6V0A2-CDG	Leao-Teles, Elisa; Quelhas, Dulce; Vilarinho, Laura
2009	Detecção e caracterização molecular de defeitos no ciclo da carnitina	Mendo, Sónia; Vilarinho, Laura; Sousa, Carmen
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
May-2010	Hipotiroxinemia em recém-nascidos pré-termo	Moreira, Amélia; Neves, Joana; Vilarinho, Laura; Osório, R. Vaz; Oliveira, Pedro; Costeira, Maria José
Jun-2012	Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency	Nogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, Laura
1-Jan-2010	Identification of novel L2HGDH gene mutations and update of the pathological spectrum	Vilarinho, Laura; Tafulo, Sandra; Sibilio, Michelina; Kok, Fernando; Fontana, Federica; Diogo, Luisa; Venâncio, Margarida; Ferreira, Mariana; Nogueira, Celia; Valongo, Carla; Parenti, Giancarlo; Amorim, António; Azevedo, Luisa
Aug-2010	Incidence of maple syrup urine disease in Portugal	Quental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria João
13-May-2011	Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis	Nogueira, Célia; Carrozzo, Rosalba; Vilarinho, Laura; Santorelli, Filippo
2012	Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients	Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura
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
Nov-2012	Molecular investigation of pediatric Portuguese patients with sensorineural hearing loss	Nogueira, Célia; Coutinho, Miguel; Pereira, Cristina; Tessa, Alessandra; Santorelli, Filippo; Vilarinho, Laura
23-Oct-2012	MPV17: fatal hepatocerebral presentation in a Brazilian infant	Nogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, Laura
Nov-2012	A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria	Nogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura

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