Maria Sofia Ferreira Pacheco Quental


AuthID: R-000-MVD

Confirmed Publications: 11



1
TITLE: Molecular characterization of maple syrup urine disease patients from Tunisia  Full Text
AUTHORS: Jaafar, N; Moleirinho, A; Kerkeni, E; Monastiri, K; Seboui, H; Amorim, Antonio ; Prata, MJ ; Quental, S ;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 517, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
2
TITLE: Incidence of maple syrup urine disease in Portugal  Full Text
AUTHORS: Quental, S ; Vilarinho, L; Martins, E ; Teles, EL; Rodrigues, E; Diogo, L; Garcia, P; Eusebio, F; Gaspar, A; Sequeira, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 15 Handle
IN MY: ORCID
3
4
TITLE: Evidence for the founder origin of 117delC MSUD mutation in Portugese gypsies  Full Text
AUTHORS: Quental, S ; Gusmao, A; Vilarinho, L; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
IN MY: ResearcherID
5
TITLE: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination  Full Text
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID | ResearcherID
6
TITLE: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community  Full Text
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID
7
8
TITLE: Molecular characterization of maple syrup urine disease Portuguese patients  Full Text
AUTHORS: Quental, S ; Matos, R; Vilarinho, L; Martins, E; Teles E Leco; Rodrigues, E; Diogo, L; Garcia, P; Eusebio, F; Gaspar, A; Sequeira, S; Furtado, F; Lanca, I; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2007, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 30
INDEXED IN: WOS
IN MY: ResearcherID
9
TITLE: Tolerance to methotrexatetherapy in childhood acute lymphoblastic leukaemia: Importance of genetic polymorphisms in folate metabolic pathway  Full Text
AUTHORS: Oliveira, E; Quental, S ; Ferreira, F; Alves, S; Gomes, V; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
INDEXED IN: WOS
IN MY: ResearcherID
10
TITLE: Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms  Full Text
AUTHORS: Oliveira, E; Alves, S; Quental, S ; Ferreira, F; Norton, L; Costa, V; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2006, SOURCE: International Congress Series, VOLUME: 1288
INDEXED IN: Scopus CrossRef: 1
IN MY: ORCID
Page 1 of 2. Total results: 11.

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