Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
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 ; ...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
72
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
73
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
74
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
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
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
76
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
77
TITLE: Heart transplantation in a patient harboring the mtDNA 3271T > C mutation
AUTHORS: Vilarinho, L; Pereira, C; Nogueira, C; Pinon, M; Martins, E; Maciel, M; Leao Teles, E;
PUBLISHED: 2004, SOURCE: 6th European Meeting on Mitochondrial Pathology in BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1657
AUTHORS: Vilarinho, L; Pereira, C; Nogueira, C; Pinon, M; Martins, E; Maciel, M; Leao Teles, E;
PUBLISHED: 2004, SOURCE: 6th European Meeting on Mitochondrial Pathology in BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1657
INDEXED IN: 
WOS
WOS78
TITLE: Analysis of polymorphic sites within ornithine transcarbamylase (OTC) gene improves mutation analysis in females with OTC deficiency
AUTHORS: Dvorakova, L; Stolnaja, L; Tietzeova, E; Azevedo, L ; Vilarinho, L; Amorim, Antonio ; Hruba, E; Hrebicek, M;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
AUTHORS: Dvorakova, L; Stolnaja, L; Tietzeova, E; Azevedo, L ; Vilarinho, L; Amorim, Antonio ; Hruba, E; Hrebicek, M;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: WOS
WOS79
TITLE: Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
80
TITLE: New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis Full Text
AUTHORS: Azevedo, L ; Stolnaja, L; Tietzeova, E; Hrebicek, M; Hruba, E; Vilarinho, L; Amorim, Antonio ; Dvorakova, L;
PUBLISHED: 2003, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 78, ISSUE: 2
AUTHORS: Azevedo, L ; Stolnaja, L; Tietzeova, E; Hrebicek, M; Hruba, E; Vilarinho, L; Amorim, Antonio ; Dvorakova, L;
PUBLISHED: 2003, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 78, ISSUE: 2
