Maria Sofia Ferreira Pacheco Quental
AuthID: R-000-MVD
11
TITLE: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
INDEXED IN: 
Scopus
Scopus12
TITLE: Effect of single-nucleotide polymorphisms of the 5 ' untranslated region of the human alpha-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians Full Text
AUTHORS: Oliveira, JP ; Ferreira, S; Barcelo, J; Gaspar, P; Carvalho, F ; Miranda, MCS ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
AUTHORS: Oliveira, JP ; Ferreira, S; Barcelo, J; Gaspar, P; Carvalho, F ; Miranda, MCS ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
13
TITLE: The g.1170C > T polymorphism of the 5 ' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression-Evidence from a family study Full Text
AUTHORS: Oliveira, JP ; Ferreira, S; Reguenga, C ; Carvalho, F ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
AUTHORS: Oliveira, JP ; Ferreira, S; Reguenga, C ; Carvalho, F ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
