Percorrer por autor Vilarinho, Laura

Índice: 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
ou inserir as letras iniciais:  
Mostrar resultados 44-63 de 91. < anterior   próximo >
DataTítuloAutor(es)TipoAcesso
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
Ago-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
Out-2017LysoGl1 e LysoGb3: biomarcadores para o diagnóstico e follow-up da Doença de Gaucher e FabryGaspar, Paulo; Rocha, Hugo; Alves, Sandra; Vilarinho, LauraconferenceObjectopenAccess
Mar-2017Lysossomal acid lipase activity in dried blood spots - preliminar resultsGaspar, Paulo; Alves, Sandra; Vilarinho, LauraconferenceObjectopenAccess
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
Mar-2013Mental retardation: a common clinical hallmark of creatine deficiency disordersValongo, Carla; Almeida, Lígia; Ramos, Altina; Santos, Raquel Andreia; Vilarinho, LauraconferenceObjectopenAccess
11-Mar-2017Metabolic Diseases Masquerading As Primary Progressive Multiple SclerosisNogueira, Célia; Vilarinho, Laura; Ribeiro, Diogo; Alves, Sandra; Vieira, Luís; Sá, Maria José; Macário, Maria do Carmo; Silva, Ana; Sá, JoãoconferenceObjectopenAccess
18-Mar-2017Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicineNogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patricia; Costa, Cláudia; Gaspar, Ana; Dupont, Juliette; Soares, Gabriela; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Santos, HelenaconferenceObjectopenAccess
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-Out-2012MPV17: fatal hepatocerebral presentation in a Brazilian infantNogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, LauraarticlerestrictedAccess
Nov-2017Neurodegenerative Lysosomal Diseases Approached by Next Generation SequencingEncarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, SandraconferenceObjectopenAccess
1-Fev-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
6-Set-2017Next Generation Sequencing Improves Mitochondrial Diseases DiagnosisNogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patrícia; Costa, Claúdia; Gaspar, Ana; Soares, Gabriela; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Sequeira, Sílvia; Vieira, José Pedro; Santos, HelenaconferenceObjectopenAccess
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
25-Mai-2017PCR in the Analysis of Clinical Samples: Prenatal and Postnatal Diagnosis of Inborn Errors of MetabolismVilarinho, Laura; Nogueira, CéliabookPartrestrictedAccess