Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
11
TITLE: Follow-up of fatty acid -oxidation disorders in expanded newborn screening era Full Text
AUTHORS: Patricia Janeiro; Rita Jotta; Ruben Ramos; Cristina Florindo; Fatima V Ventura; Laura Vilarinho; Isabel Tavares de Almeida; Ana Gaspar;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 3
AUTHORS: Patricia Janeiro; Rita Jotta; Ruben Ramos; Cristina Florindo; Fatima V Ventura; Laura Vilarinho; Isabel Tavares de Almeida; Ana Gaspar;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 3
INDEXED IN: 
Scopus 
WOS
Scopus WOS12
TITLE: Newborn screening for homocystinurias: Recent recommendations versus current practice Full Text
AUTHORS: Rebecca Keller; Petr Chrastina; Marketa Pavlikova; Sofia Gouveia; Antonia Ribes; Stefan Koelker; Henk J Blom; Matthias R Baumgartner; Josef Bartl; Carlo Dionisi Vici; Florian Gleich; Andrew A Morris; Viktor Kozich; Martina Huemer; Ivo Baric; Tawfeq Ben Omran; Javier Blasco Alonso; Maria A Bueno Delgado; Claudia Carducci; Michela Cassanello; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
AUTHORS: Rebecca Keller; Petr Chrastina; Marketa Pavlikova; Sofia Gouveia; Antonia Ribes; Stefan Koelker; Henk J Blom; Matthias R Baumgartner; Josef Bartl; Carlo Dionisi Vici; Florian Gleich; Andrew A Morris; Viktor Kozich; Martina Huemer; Ivo Baric; Tawfeq Ben Omran; Javier Blasco Alonso; Maria A Bueno Delgado; Claudia Carducci; Michela Cassanello; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS13
TITLE: Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction Full Text
AUTHORS: Celia Nogueira; Lisbeth Silva; Cristina Pereira; Luis Vieira; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Campos; Patricia Janeiro; Ana Gaspar; Juliette Dupont; Anabela Bandeira; Esmeralda Martins ; Marina Magalhaes; Silvia Sequeira; Jose Pedro Vieira; Helena Santos; Silvia Vilarinho; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: MITOCHONDRION, VOLUME: 47
AUTHORS: Celia Nogueira; Lisbeth Silva; Cristina Pereira; Luis Vieira; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Campos; Patricia Janeiro; Ana Gaspar; Juliette Dupont; Anabela Bandeira; Esmeralda Martins ; Marina Magalhaes; Silvia Sequeira; Jose Pedro Vieira; Helena Santos; Silvia Vilarinho; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: MITOCHONDRION, VOLUME: 47
14
TITLE: Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
AUTHORS: Henriques, BJ; Lucas, TG; Martins, E ; Gaspar, A; Bandeira, A; Nogueira, C; Brandao, O; Rocha, H; Vilarinho, L; Gomes, CM;
PUBLISHED: 2019, SOURCE: CURRENT MOLECULAR MEDICINE, VOLUME: 19, ISSUE: 7
AUTHORS: Henriques, BJ; Lucas, TG; Martins, E ; Gaspar, A; Bandeira, A; Nogueira, C; Brandao, O; Rocha, H; Vilarinho, L; Gomes, CM;
PUBLISHED: 2019, SOURCE: CURRENT MOLECULAR MEDICINE, VOLUME: 19, ISSUE: 7
15
TITLE: Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference Full Text
AUTHORS: Stephan Lobitz; Paul Telfer; Elena Cela; Bichr Allaf; Michael Angastiniotis; Carolina Backman Johansson; Catherine Badens; Celeste Bento; Marelle J Bouva; Duran Canatan; Matthew Charlton; Cathy Coppinger; Yvonne Daniel; Marianne de Montalembert; Patrick Ducoroy; Elena Dulin; Ralph Fingerhut; Claudia Froemmel; Marina Garcia Morin; Beatrice Gulbis; ...More
PUBLISHED: 2018, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 183, ISSUE: 4
AUTHORS: Stephan Lobitz; Paul Telfer; Elena Cela; Bichr Allaf; Michael Angastiniotis; Carolina Backman Johansson; Catherine Badens; Celeste Bento; Marelle J Bouva; Duran Canatan; Matthew Charlton; Cathy Coppinger; Yvonne Daniel; Marianne de Montalembert; Patrick Ducoroy; Elena Dulin; Ralph Fingerhut; Claudia Froemmel; Marina Garcia Morin; Beatrice Gulbis; ...More
PUBLISHED: 2018, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 183, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS16
TITLE: Molecular picture of cobalamin C/D defects before and after newborn screening era
AUTHORS: Nogueira, C; Marcao, A; Rocha, H; Sousa, C; Fonseca, H; Valongo, C; Vilarinho, L;
PUBLISHED: 2017, SOURCE: JOURNAL OF MEDICAL SCREENING, VOLUME: 24, ISSUE: 1
AUTHORS: Nogueira, C; Marcao, A; Rocha, H; Sousa, C; Fonseca, H; Valongo, C; Vilarinho, L;
PUBLISHED: 2017, SOURCE: JOURNAL OF MEDICAL SCREENING, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS17
TITLE: LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
AUTHORS: Nunes, D; Nogueira, C; Lopes, A; Chaves, P ; Rodrigues, E; Cardoso, T; Leao L Teles; Vilarinho, L;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 9
AUTHORS: Nunes, D; Nogueira, C; Lopes, A; Chaves, P ; Rodrigues, E; Cardoso, T; Leao L Teles; Vilarinho, L;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 9
18
TITLE: A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduria
AUTHORS: Celia Nogueira; Maria Chiara Meschini; Claudia Nesti; Paula Garcia; Luisa Diogo; Carla Valongo; Ricardo Costa; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 2
AUTHORS: Celia Nogueira; Maria Chiara Meschini; Claudia Nesti; Paula Garcia; Luisa Diogo; Carla Valongo; Ricardo Costa; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 2
19
TITLE: Syndromes associated with mitochondrial DNA depletion Full Text
AUTHORS: Celia Nogueira; Ligia S Almeida; Claudia Nesti; Ilaria Pezzini; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2014, SOURCE: ITALIAN JOURNAL OF PEDIATRICS, VOLUME: 40, ISSUE: 1
AUTHORS: Celia Nogueira; Ligia S Almeida; Claudia Nesti; Ilaria Pezzini; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2014, SOURCE: ITALIAN JOURNAL OF PEDIATRICS, VOLUME: 40, ISSUE: 1
20
TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
