71
TITLE: NOVEL MUTATIONS IN 21 PATIENTS WITH L-2-HYDROXYGLUTARIC ACIDURIA OF PORTUGUESE ORIGIN  Full Text
AUTHORS: Vilarinho, L; Cardoso, ML; Gaspar, P; Barbot, C ; Azevedo, L ; Diogo, L; Santos, M; Carrilho, I; Fineza, I; Kok, F; Chorao, R; Alegria, P; Martins, E ; Teixeira, J; Cabral C Fernandes; Verhoeven, NM; Salomons, GS; Santorelli, FM; Cabral, P; Amorim, Antonio ; Jakobs, C; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 26
73
TITLE: Galactosemia: The genotype and phenotype of seven patients
AUTHORS: Martins, E ; Teixeira, J; Cardoso, ML; Lima, MR; Briones Godino, P; Barbot, C ;
PUBLISHED: 2004, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 38, ISSUE: 12
INDEXED IN: Scopus WOS
74
TITLE: Maple syrup disease presenting as paroxysmal dystonia  Full Text
AUTHORS: Temudo, T; Martins, E ; Pocas, F; Cruz, R; Vilarinho, L;
PUBLISHED: 2004, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 56, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
75
TITLE: The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency  Full Text
AUTHORS: Cardoso, ML; Rodrigues, MR; Leao, E; Martins, E ; Diogo, L; Rodrigues, E; Garcia, P; Rolland, MO; Vilarinho, L;
PUBLISHED: 2004, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 82, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
76
TITLE: Central diabetes insipidus: A case report
AUTHORS: Madalena, C; Sameiro Faria, M; Coelho, B; Martins, E ; Mota, C; Pereira, E;
PUBLISHED: 2002, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 35, ISSUE: 5
INDEXED IN: Scopus WOS
77
TITLE: Maroteaux-Lamy syndrome - An unusual presentation [Síndrome de Maroteaux-Lamy uma apresentação invulgar]
AUTHORS: Goncalves, S; Oliveira, T; Iglesias, I; Martins, E ; Santos, M; Marques, L;
PUBLISHED: 2002, SOURCE: Nascer e Crescer, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus
78
TITLE: Metabolic diseases [Doenças metabólicas de atingimento hepático]
AUTHORS: Martins, E ;
PUBLISHED: 2002, SOURCE: Nascer e Crescer, VOLUME: 11, ISSUE: 3
INDEXED IN: Scopus
79
TITLE: Prolidase deficiency with hyperimmunoglobulin E: A case report  Full Text
AUTHORS: Lopes, I; Marques, L; Neves, E; Silva, A; Taveira, M; Pena, R; Vilarinho, L; Martins, E ;
PUBLISHED: 2002, SOURCE: PEDIATRIC ALLERGY AND IMMUNOLOGY, VOLUME: 13, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
80
TITLE: Cardiovascular manifestations in Marfan syndrome.
AUTHORS: Figueiredo, S; Martins, E ; Lima, MR; Alvares, S;
PUBLISHED: 2001, SOURCE: Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, VOLUME: 20, ISSUE: 12
INDEXED IN: Scopus
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