Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
41
TITLE: <i>PAH</i> mutational spectrum: still expanding Full Text
AUTHORS: Laura Vilarinho; Sofia Esteves; Elisabete Ramos ; António Amorim; Luisa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
AUTHORS: Laura Vilarinho; Sofia Esteves; Elisabete Ramos ; António Amorim; Luisa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
42
TITLE: Incidence of maple syrup urine disease in Portugal Full Text
AUTHORS: Quental, S ; Vilarinho, L; Martins, E ; Teles, EL; Rodrigues, E; Diogo, L; Garcia, P; Eusebio, F; Gaspar, A; Sequeira, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
AUTHORS: Quental, S ; Vilarinho, L; Martins, E ; Teles, EL; Rodrigues, E; Diogo, L; Garcia, P; Eusebio, F; Gaspar, A; Sequeira, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
43
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
INDEXED IN: 
Scopus 
WOS
Scopus WOS44
TITLE: Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A > G Mutation of Mitochondrial DNA
AUTHORS: Olga Azevedo; Laura Vilarinho; Filipa Almeida; Francisco Ferreira; Joana Guardado; Mariana Ferreira; Antonio Lourenco; Rosa Medeiros; Joao Almeida;
PUBLISHED: 2010, SOURCE: CARDIOLOGY, VOLUME: 115, ISSUE: 1
AUTHORS: Olga Azevedo; Laura Vilarinho; Filipa Almeida; Francisco Ferreira; Joana Guardado; Mariana Ferreira; Antonio Lourenco; Rosa Medeiros; Joao Almeida;
PUBLISHED: 2010, SOURCE: CARDIOLOGY, VOLUME: 115, ISSUE: 1
45
TITLE: Identification of novel L2HGDH gene mutations and update of the pathological spectrum Full Text
AUTHORS: Vilarinho, L; Tafulo, S; Sibilio, M; Kok, F; Fontana, F; Diogo, L; Venancio, M; Ferreira, M; Nogueira, C; Valongo, C; Parenti, G; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
AUTHORS: Vilarinho, L; Tafulo, S; Sibilio, M; Kok, F; Fontana, F; Diogo, L; Venancio, M; Ferreira, M; Nogueira, C; Valongo, C; Parenti, G; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
46
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
47
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 CrossRef48
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
WOS49
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
WOS50
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
