Laura Ferreira Teixeira Vilarinho


AuthID: R-002-GKT

Publications Requiring Validation

51
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
INDEXED IN: WOS
52
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
INDEXED IN: WOS
53
54
55
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
INDEXED IN: CrossRef
56
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
INDEXED IN: Scopus WOS CrossRef: 5
57
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
INDEXED IN: Scopus WOS CrossRef: 25
58
TITLE: Outcome of three cases of untreated maternal glutaric aciduria type I  Full Text
AUTHORS: Paula Garcia; Esmeralda Martins ; Luisa Diogo; Hugo Rocha; Ana Marcao; Eurico Gaspar; Margarida Almeida; Catarina Vaz; Isabel Soares; Clara Barbot ; Laura Vilarinho;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 167, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
59
TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type  Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; Carlo Dionisi Vici; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
60
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2  Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; Memmune Yuksel-Apak; Marc Larregue; Jacqueline Vigneron; Sanda Giurgea; Uwe Kornak; Stefan Mundlos; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
INDEXED IN: Scopus CrossRef
Page 6 of 9. Total results: 89.

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service