Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
61
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
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
62
TITLE: SANDO: Two novel mutations in POLG1 gene Full Text
AUTHORS: Miguel Fernandes Gago; Rosas, MJ; Joana Guirnaraes ; Mariana Ferreira; Laura Vilarinho; Ligia Castro; Stirling Carpenter;
PUBLISHED: 2006, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 8
AUTHORS: Miguel Fernandes Gago; Rosas, MJ; Joana Guirnaraes ; Mariana Ferreira; Laura Vilarinho; Ligia Castro; Stirling Carpenter;
PUBLISHED: 2006, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 8
63
TITLE: Prenatal diagnosis for CDG 1a based on post-mortem molecular study of Guthrie card Full Text
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
64
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
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
65
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 ; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
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 ; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
66
TITLE: mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk Full Text
AUTHORS: Goios, A ; Nogueira, C; Pereira, C; Vilarinho, L; Amorim, Antonio ; Pereira, L ;
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 5
AUTHORS: Goios, A ; Nogueira, C; Pereira, C; Vilarinho, L; Amorim, Antonio ; Pereira, L ;
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 5
67
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
AUTHORS: Temudo, T; Martins, E ; Pocas, F; Cruz, R; Vilarinho, L;
PUBLISHED: 2004, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 56, ISSUE: 5
68
TITLE: Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry Full Text
AUTHORS: Valongo, C; Cardoso, ML; Domingues, P; Almeida, L; Verhoeven, N; Salomons, G; Jakobs, C; Vilarinho, L;
PUBLISHED: 2004, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 348, ISSUE: 1-2
AUTHORS: Valongo, C; Cardoso, ML; Domingues, P; Almeida, L; Verhoeven, N; Salomons, G; Jakobs, C; Vilarinho, L;
PUBLISHED: 2004, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 348, ISSUE: 1-2
69
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
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
70
TITLE: Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship Full Text
AUTHORS: Lupi, A; De Riso, A; Della Torre, S; Rossi, A; Campari, E; Vilarinho, L; Cetta, G; Forlino, A;
PUBLISHED: 2004, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 49, ISSUE: 9
AUTHORS: Lupi, A; De Riso, A; Della Torre, S; Rossi, A; Campari, E; Vilarinho, L; Cetta, G; Forlino, A;
PUBLISHED: 2004, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 49, ISSUE: 9
