Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
41
TITLE: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases Full Text
AUTHORS: Esmeralda Martins ; Luis Cardoso, ML; Esmeralda Rodrigues; Clara Barbot ; Altina Ramos; Michael J Bennett; Elisa Leao Teles; Laura Vilarinho;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 3
AUTHORS: Esmeralda Martins ; Luis Cardoso, ML; Esmeralda Rodrigues; Clara Barbot ; Altina Ramos; Michael J Bennett; Elisa Leao Teles; Laura Vilarinho;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 3
42
TITLE: Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 Full Text
AUTHORS: Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte ; Fiorella Piemonte; Carlo Dionisi Vici; Arnaldo Videira ; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini;
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 1
AUTHORS: Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte ; Fiorella Piemonte; Carlo Dionisi Vici; Arnaldo Videira ; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini;
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 1
43
TITLE: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Full Text
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
44
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
45
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
46
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 WOS47
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
48
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
49
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
50
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 
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