81
TITLE: Liver transplantation in a case of argininaemia  Full Text
AUTHORS: Silva, ES; Martins, E ; Cardoso, ML; Barbot, C ; Vilarinho, L; Medina, M;
PUBLISHED: 2001, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 24, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 12
82
TITLE: Central diabetes insipidus - A case report [Diabetes insipida central - Um caso clinico]
AUTHORS: Madalena, C; Sameiro Faria, M; Coelho, B; Martins, E ; Mota, C; Pereira, E;
PUBLISHED: 2000, SOURCE: Nascer e Crescer, VOLUME: 9, ISSUE: 2
INDEXED IN: Scopus
83
TITLE: Sjörgren - Larsson syndrome [Síndrome de Sjögren-larsson - Caso clínico]
AUTHORS: Oliveira, T; Rosario, C; Selores, M; Martins, E ; Barbot, C ;
PUBLISHED: 2000, SOURCE: Nascer e Crescer, VOLUME: 9, ISSUE: 4
INDEXED IN: Scopus
84
TITLE: The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients  Full Text
AUTHORS: Rivera, I ; Cabral, A; Almeida, M; Leandro, P ; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E ; Lechner, MC; de Almeida, IT ; Konecki, DS; Lichter Konecki, U;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
86
TITLE: Glycogen storage disease type IV presenting as hydrops fetalis  Full Text
AUTHORS: Alegria, A; Martins, E ; Dias, M; Cunha, A; Cardoso, ML; Maire, I;
PUBLISHED: 1999, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 22, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 27
87
TITLE: Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.  Full Text
AUTHORS: Cardoso, ML; Martins, E ; Vasconcelos, R; Vilarinho, L; Rocha, J;
PUBLISHED: 1999, SOURCE: Human mutation, VOLUME: 14, ISSUE: 4
INDEXED IN: Scopus
88
TITLE: Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics  Full Text
AUTHORS: Ferreira, H; Seppala, R; Pinto, R; Huizing, M; Martins, E ; Braga, AC; Gomes, L; Krasnewich, DM; Miranda, MCS ; Gahl, WA;
PUBLISHED: 1999, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 67, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
89
TITLE: What is your diagnosis? Microcytic anaemia refractory to iron therapy [Qual o seu diagnostico? Anemia microcitica sem resposta ao tratamento com ferro]
AUTHORS: Martins, E ; Barbot, J; Carrapato, R;
PUBLISHED: 1999, SOURCE: Nascer e Crescer, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus
90
TITLE: What is your diagnosis? [Qual o seu diagnostico? Elevacao persistente da aspartato aminotransferase]
AUTHORS: Martins, E ; Carvalho, A; Silva, E;
PUBLISHED: 1999, SOURCE: Nascer e Crescer, VOLUME: 8, ISSUE: 4
INDEXED IN: Scopus
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