Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
51
TITLE: Identification of novel L2HGDH gene mutations and update of the pathological spectrum Full Text
AUTHORS: Laura Vilarinho; Sandra Tafulo; Michelina Sibilio; Fernando Kok; Federica Fontana; Luisa Diogo; Margarida Venancio; Mariana Ferreira; Celia Nogueira; Carla Valongo; Giancarlo Parenti; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
AUTHORS: Laura Vilarinho; Sandra Tafulo; Michelina Sibilio; Fernando Kok; Federica Fontana; Luisa Diogo; Margarida Venancio; Mariana Ferreira; Celia Nogueira; Carla Valongo; Giancarlo Parenti; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
52
TITLE: Four years of expanded newborn screening in Portugal with tandem mass spectrometry Full Text
AUTHORS: Laura Vilarinho; Hugo Rocha; Carmen Sousa; Ana Marcao; Helena Fonseca; Mario Bogas; Rui Vaz Osorio;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: SUPPL. 3
AUTHORS: Laura Vilarinho; Hugo Rocha; Carmen Sousa; Ana Marcao; Helena Fonseca; Mario Bogas; Rui Vaz Osorio;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: SUPPL. 3
53
TITLE: Neonatal cholestasis: an uncommon presentation of hyperargininemia Full Text
AUTHORS: Martins, EG ; Silva, ES; Vilarinho, S; Saudubray, JM; Vilarinho, L;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: S3
AUTHORS: Martins, EG ; Silva, ES; Vilarinho, S; Saudubray, JM; Vilarinho, L;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: S3
INDEXED IN: 
WOS 
CrossRef
WOS CrossRef54
TITLE: METHYLMALONIC ACIDURIAS mut(0)/mut(-) and cblC Defects in Portuguese Population
AUTHORS: Celia Nogueira; Marta Marques; Laura Vilarinho;
PUBLISHED: 2010, SOURCE: 1st International Conference on Bioinformatics (BIOINFORMATICS 2010) in BIONFORMATICS 2010: PROCEEDINGS OF THE FIRST INTERNATIONAL CONFERENCE ON BIOINFORMATICS
AUTHORS: Celia Nogueira; Marta Marques; Laura Vilarinho;
PUBLISHED: 2010, SOURCE: 1st International Conference on Bioinformatics (BIOINFORMATICS 2010) in BIONFORMATICS 2010: PROCEEDINGS OF THE FIRST INTERNATIONAL CONFERENCE ON BIOINFORMATICS
INDEXED IN: WOS
WOS55
TITLE: EXPANDED NEWBORN SCREENING IN PORTUGAL: FOUR YEARS RESULTS Full Text
AUTHORS: Vilarinho, L; Rocha, H; Marcao, A; Sousa, C; Fonseca, H; Gomes, D; Lopes, L; Vaz V Osorio;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
AUTHORS: Vilarinho, L; Rocha, H; Marcao, A; Sousa, C; Fonseca, H; Gomes, D; Lopes, L; Vaz V Osorio;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
INDEXED IN: WOS
WOS56
TITLE: Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene Full Text
AUTHORS: Sofia Quental ; Alfredo Gusmao; Pilar Rodriguez Pombo; Magdalena Ugarte; Laura Vilarinho; Amorim, Antonio ; Maria J Prata ;
PUBLISHED: 2009, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 73, ISSUE: 3
AUTHORS: Sofia Quental ; Alfredo Gusmao; Pilar Rodriguez Pombo; Magdalena Ugarte; Laura Vilarinho; Amorim, Antonio ; Maria J Prata ;
PUBLISHED: 2009, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 73, ISSUE: 3
57
TITLE: Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal Full Text
AUTHORS: Luisa Diogo; Manuela Grazina ; Paula Garcia; Olinda Rebelo; Margarida Alte Veiga; Juan Cuevas; Laura Vilarinho; Isabel Tavares de Almeida ; Catarina Resende Oliveira ;
PUBLISHED: 2009, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 40, ISSUE: 5
AUTHORS: Luisa Diogo; Manuela Grazina ; Paula Garcia; Olinda Rebelo; Margarida Alte Veiga; Juan Cuevas; Laura Vilarinho; Isabel Tavares de Almeida ; Catarina Resende Oliveira ;
PUBLISHED: 2009, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 40, ISSUE: 5
58
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
INDEXED IN: CrossRef
CrossRef59
TITLE: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination Full Text
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
60
TITLE: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community Full Text
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
