Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
11
TITLE: Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI-Indirect Proof of Principle on Its Pathogenicity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
12
TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants Full Text
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
INDEXED IN: 
Scopus 
WOS
Scopus WOS13
TITLE: Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene Full Text
AUTHORS: Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas;
PUBLISHED: 2020, SOURCE: METABOLIC BRAIN DISEASE
AUTHORS: Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas;
PUBLISHED: 2020, SOURCE: METABOLIC BRAIN DISEASE
INDEXED IN: Scopus WOS
Scopus WOS14
TITLE: Impact of iodine supplementation during preconception, pregnancy and lactation on maternal thyroid homeostasis and offspring psychomotor development: protocol of the IodineMinho prospective study Full Text
AUTHORS: Maria Lopes Pereira; Susana Roque; Patricio Costa; Anna Quialheiro; Nadine Correia Santos; Ana Goios; Laura Vilarinho; Margarida Correia Neves; Joana Almeida Palha;
PUBLISHED: 2020, SOURCE: BMC PREGNANCY AND CHILDBIRTH, VOLUME: 20, ISSUE: 1
AUTHORS: Maria Lopes Pereira; Susana Roque; Patricio Costa; Anna Quialheiro; Nadine Correia Santos; Ana Goios; Laura Vilarinho; Margarida Correia Neves; Joana Almeida Palha;
PUBLISHED: 2020, SOURCE: BMC PREGNANCY AND CHILDBIRTH, VOLUME: 20, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS15
TITLE: Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence Full Text
AUTHORS: Margarida Paiva Coelho; Esmeralda Martins ; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 1
AUTHORS: Margarida Paiva Coelho; Esmeralda Martins ; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 1
16
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 WOS17
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 WOS18
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
19
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
20
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 WOS