Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

Confirmed Publications: 93



61
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
IN MY: ORCID
62
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
IN MY: ORCID
63
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
IN MY: ORCID
64
TITLE: Chronic intestinal pseudo-obstruction - Report of one case [Pseudo-obstrução intestinal - Caso clínico]
AUTHORS: Teixeira, C; Lima, R; Ferreira, H; Recamen, M; Martins, E ; Ramos, A; Oliveira, L; Rocha, H;
PUBLISHED: 2006, SOURCE: Nascer e Crescer, VOLUME: 15, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
65
TITLE: Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)  Full Text
AUTHORS: Azevedo, L ; Soares, PA; Quental, R; Vilarinho, L; Teles, EL; Martins, E ; Diogo, L; Garcia, P; Cenni, B; Wermuth, B; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 70, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
66
TITLE: Neuroimaging features in mucopolysaccharidosis: their correlation with mental retardation
AUTHORS: Sa, G; Teixeira, JF; Cruz, R; Barbot, C ; Martins, E ;
PUBLISHED: 2006, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 43, ISSUE: 12
INDEXED IN: Scopus WOS
IN MY: ORCID
67
TITLE: Cyclic vomiting/glutaric aciduria type II - Case report [Vómitos cíclicos/acidúria glutárica tipo II - Caso clínico]
AUTHORS: Sarmento, A; Cardoso, ML; Teixeira, F; Barbot, C ; Martins, E ;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
68
TITLE: Genes, children and paediatricians [Genes, crianças e pediatras]
AUTHORS: Soares, G; Silva, J; Rocha, M; Dias, C; Pinto Basto, J; Martins, M; Fortuna, A; Martins, E ; Reis Lima, M;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
69
TITLE: Inborn defects in fatty acid β-oxidation - Review [Defeitos da β-oxidação mitocondrial dos ácidos gordos - Artigo de revisão]
AUTHORS: Sarmento, A; Cardoso, ML; Barbot, C ; Martins, E ;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
70
TITLE: Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7  Full Text
AUTHORS: Cardoso, ML; Balreira, A; Martins, E ; Nunes, L; Cabral, A; Marques, M; Lima, MR; Marques, JS; Medeira, A; Cordeiro, I; Pedro, S; Mota, MC; Dionisi Vici, C; Santorelli, FM; Jakobs, C; Clayton, PT; Vilarinho, L;
PUBLISHED: 2005, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 85, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 7 of 10. Total results: 93.

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