Susana Moreira Ferreira


AuthID: R-000-KNQ

Confirmed Publications: 8



1
TITLE: Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease  Full Text
AUTHORS: Pedro Castro ; Mariana Gutierres; Gilberto Pereira; Susana Ferreira ; Oliveira, JP ; Elsa Azevedo ;
PUBLISHED: 2020, SOURCE: BRAIN SCIENCES, VOLUME: 10, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 5
2
TITLE: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
AUTHORS: Oliveira, JP ; Albina Nowak; Frederic Barbey; Marcia Torres; Jose P Nunes ; Fernando Teixeira e Costa; Fernanda Carvalho; Susana Sampaio ; Isabel Tavares ; Odete Pereira; Ana L Soares; Catia Carmona; Maria Teresa Cardoso; Iulia E Jurca Simina; Marco Spada; Susana Ferreira ; Dominique P Germain;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 18
3
TITLE: Fabry disease associated with the GLA p.Phe113Leu variant: Evidence for a common ancestor between Portuguese and Italians  Full Text
AUTHORS: Diana Martins; Susana Ferreira ; Luisa Pereira; Nicoletta Chiesa; Joao Oliveira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
4
TITLE: Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations  Full Text
AUTHORS: Oliveira, JP ; Susana Ferreira ;
PUBLISHED: 2019, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 12
INDEXED IN: Scopus WOS CrossRef: 33
5
6
TITLE: Individuals With Normal GLA Gene Sequence May Present Abnormally Spliced Alpha-Galactosidase mRNA Transcripts
AUTHORS: Susana Ferreira ; Miguel Viana-Baptista; Daniel Rodrigues; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: Gene, Cell and Tissue, VOLUME: 3, ISSUE: 1
INDEXED IN: CrossRef
7
TITLE: The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies  Full Text
AUTHORS: Susana Ferreira ; Alberto Ortiz; Dominique P Germain; Miguel Viana Baptista; Antonio Caldeira Gomes; Marta Camprecios; Maria Fenollar Cortes; Angel Gallegos Villalobos; Diego Garcia; Jose A Antonio Garcia Robles; Jesus Egido; Eduardo Gutierrez Rivas; Jose A Antonio Herrero; Sebastian Mas; Raluca Oancea; Paloma Peres; Luis M Manuel Salazar Martin; Jesus Solera Garcia; Helena Alves; Scott C Garman; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 64
8
TITLE: Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma  Full Text
AUTHORS: Susana Ferreira ; Christiane Auray Blais; Michel Boutin; Pamela Lavoie; Jose Pedro Nunes ; Elisabete Martins ; Scott Garman; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 447
INDEXED IN: Scopus WOS CrossRef: 17

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