Browsing by Author Vilarinho, Laura

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Issue DateTitleAuthor(s)TypeAccess Type
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
May-2010Hipotiroxinemia em recém-nascidos pré-termoMoreira, Amélia; Neves, Joana; Vilarinho, Laura; Osório, R. Vaz; Oliveira, Pedro; Costeira, Maria JoséarticleopenAccess
Jun-2012Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiencyNogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Dec-2013Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndromeNogueira, Célia; Sales Marques, Jorge; Nesti, Claudia; Azevedo, Luisa; Di Lullo, Martina; Meschini, M. Clara; Santorelli, Filippo; Vilarinho, LauraarticleembargoedAccess
1-Jan-2010Identification of novel L2HGDH gene mutations and update of the pathological spectrumVilarinho, Laura; Tafulo, Sandra; Sibilio, Michelina; Kok, Fernando; Fontana, Federica; Diogo, Luisa; Venâncio, Margarida; Ferreira, Mariana; Nogueira, Celia; Valongo, Carla; Parenti, Giancarlo; Amorim, António; Azevedo, LuisaarticlerestrictedAccess
Oct-2014Inborn errors of metabolism and expanded newborn screening in Portugal: 2004-2014Marcão, Ana; Vilarinho, Laura; Sousa, Carmen; Fonseca, Helena; Lopes, Lurdes; Rocha, HugoconferenceObjectopenAccess
Aug-2010Incidence of maple syrup urine disease in PortugalQuental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria JoãoarticlerestrictedAccess
Feb-2014Incidência da deficiência da desidrogenase dos ácidos gordos de cadeia média (MCAD) em PortugalPinho e Costa, Paulo; Vilarinho, LauraarticleopenAccess
13-May-2011Infantile-Onset Disorders of Mitochondrial Replication and Protein SynthesisNogueira, Célia; Carrozzo, Rosalba; Vilarinho, Laura; Santorelli, FilippoarticlerestrictedAccess
Dec-2013Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL geneAntunes, Antonio; Nogueira, Célia; Rocha, Hugo; Vilarinho, Laura; Evangelista, TeresinhaarticlerestrictedAccess
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