Maria Francisca de Lima Magriço Coutinho
AuthID: R-001-P02
21
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
Scopus CrossRef22
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
23
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
24
TITLE: Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene Full Text
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, ISSUE: 5
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, ISSUE: 5
25
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
26
TITLE: Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 4
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 4
27
TITLE: Glycosaminoglycan storage disorders: A review Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
INDEXED IN: Scopus CrossRef
Scopus CrossRef28
TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
29
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations Full Text
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
30
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
