Maria Francisca de Lima Magriço Coutinho
AuthID: R-001-P02
21
TITLE: Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders Full Text
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 17, ISSUE: 7
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 17, ISSUE: 7
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TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Maria Francisca Coutinho; Marisa Encarnacao; Francisco Laranjeira ; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
AUTHORS: Maria Francisca Coutinho; Marisa Encarnacao; Francisco Laranjeira ; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
23
TITLE: From bedside to cell biology: A century of history on lysosomal dysfunction Full Text
AUTHORS: Maria Francisca Coutinho; Liliana Matos; Sandra Alves;
PUBLISHED: 2015, SOURCE: GENE, VOLUME: 555, ISSUE: 1
AUTHORS: Maria Francisca Coutinho; Liliana Matos; Sandra Alves;
PUBLISHED: 2015, SOURCE: GENE, VOLUME: 555, ISSUE: 1
24
TITLE: Corn distiller's dried grains with solubles: Apparent digestibility and digestive enzymes activities in European seabass (Dicentrarchus labrax) and meagre (Argyrosomus regius) Full Text
AUTHORS: Magalhaes, R; Coutinho, F; Pousao Ferreira, P; Aires, T; Oliva Teles, A ; Helena Peres ;
PUBLISHED: 2015, SOURCE: Aquaculture, VOLUME: 443
AUTHORS: Magalhaes, R; Coutinho, F; Pousao Ferreira, P; Aires, T; Oliva Teles, A ; Helena Peres ;
PUBLISHED: 2015, SOURCE: Aquaculture, VOLUME: 443
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TITLE: Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. Analyses of M6P-independent trafficking genes Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
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TITLE: Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB) Full Text
AUTHORS: Raffaella De Pace; Maria Francisca Coutinho; Friedrich Koch Nolte; Friedrich Haag; Maria Joao Prata ; Sandra Alves; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 3
AUTHORS: Raffaella De Pace; Maria Francisca Coutinho; Friedrich Koch Nolte; Friedrich Haag; Maria Joao Prata ; Sandra Alves; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 3
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TITLE: Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation Full Text
AUTHORS: Shagun Aggarwal; Maria Francisca Coutinho; Ashwin B Dalal; Jamal Mohamed Nurul N Jain; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 542, ISSUE: 2
AUTHORS: Shagun Aggarwal; Maria Francisca Coutinho; Ashwin B Dalal; Jamal Mohamed Nurul N Jain; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 542, ISSUE: 2
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TITLE: Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
INDEXED IN: Scopus CrossRef
29
TITLE: Sortilina e risco de doença cardiovascular
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon; Maria João Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 32, ISSUE: 10
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon; Maria João Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 32, ISSUE: 10
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TITLE: A shortcut to the lysosome: The mannose-6-phosphate-independent pathway Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 3
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 3