Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

Confirmed Publications: 93



51
52
TITLE: Methionine adenosyltransferase I/III deficiency in Portugal: High frequency of a dominantly inherited form in a small area of douro high lands
AUTHORS: Martins, E ; Marcão, A; Bandeira, A; Fonseca, H; Nogueira, C; Vilarinho, L;
PUBLISHED: 2012, SOURCE: JIMD Reports, VOLUME: 6
INDEXED IN: Scopus CrossRef: 20
IN MY: ORCID
53
TITLE: Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations  Full Text
AUTHORS: Mariana Ferreira; Teresinha Evangelista; Ligia S Almeida; Joao Martins; Maria Carmo Macario; Esmeralda Martins ; Ana Moleirinho; Luisa Azevedo ; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
54
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
55
TITLE: Incidence of maple syrup urine disease in Portugal  Full Text
AUTHORS: Sofia Quental ; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
56
TITLE: Neonatal cholestasis: An uncommon presentation of hyperargininemia
AUTHORS: Gomes Martins, E ; Santos Silva, E; Vilarinho, S; Saudubray, JM; Vilarinho, L;
PUBLISHED: 2010, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 33, ISSUE: SUPPL. 3
INDEXED IN: Scopus
IN MY: ORCID
57
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
INDEXED IN: WOS CrossRef
IN MY: ORCID
58
TITLE: Congenital hyperinsulinism - Theorical revision and clinical cases [Hiperinsulinismo congénito revisão teórica e série de casos]
AUTHORS: Bandeira, A; Cardoso, C; Sizenando, J; Proenca, E; Martins, E ;
PUBLISHED: 2008, SOURCE: Nascer e Crescer, VOLUME: 17, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
59
TITLE: Genes, children and paediatricians [Genes, Crianças e pediatras]
AUTHORS: Sousa, P; Lima, MR; Martins, E ;
PUBLISHED: 2008, SOURCE: Nascer e Crescer, VOLUME: 17, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
60
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
IN MY: ORCID
Page 6 of 10. Total results: 93.

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