21
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
INDEXED IN: CrossRef: 5
22
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
INDEXED IN: Scopus WOS CrossRef: 81
23
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
INDEXED IN: Scopus WOS CrossRef: 10
24
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
INDEXED IN: Scopus WOS CrossRef: 10
25
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
INDEXED IN: Scopus WOS CrossRef: 169
26
TITLE: Glycosaminoglycan storage disorders: A review  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
INDEXED IN: Scopus CrossRef
27
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
INDEXED IN: Scopus WOS CrossRef: 14
28
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
INDEXED IN: Scopus WOS CrossRef: 42
29
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
INDEXED IN: Scopus WOS CrossRef: 13
30
TITLE: Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and galactosialidosis  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Alves, S;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
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