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Browsing by Author Coutinho, Maria Francisca

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Issue DateTitleAuthor(s)
Sep-2009Molecular Characterization of Portuguese Patients with Pathologies Related to the Lysosomal Multienzymatic Complex: Sialidosis, Galactosialidosis and GM1 Gangliosidosis.Coutinho, Maria Francisca; Macedo-Ribeiro, Sandra; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Baptista, Estela; Rodrigues, M.C.; Alves, Sandra
7-Feb-2009Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal traffickingCoutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Lacerda, Lúcia; Bargal, Ruth; Filocammo, Mirella; Raas-Rothschild; Tappino, Barbara; Laprise, Cathrine; Sirois-Gagnon, D.; Costa, Roberto; Ribeiro, Helena; Lopes, Lurdes; Alves, Sandra
Jun-2010Molecular Characterization of the Portuguese Patients with defects in the GLB1 gene: evidences of a strong genotype-phenotype correlation.Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
2007Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIICCoutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra
Feb-2008Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIICCoutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra
15-Jan-2014Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)De Pace, Raffaella; Coutinho, Maria Francisca; Koch-Nolte, Friedrich; Haag, Friedrich; Prata, Maria João; Alves, Sandra; Braulke, Thomas; Pohl, Sandra
May-2012Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB geneCoutinho, Maria Francisca; da Silva Santos, Liliana; Girisha, K.M.; Satyamoorthy, K.; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra
Mar-2013Mucopolysaccharidosis type III in PortugalCaseiro, Carla; Rocha, Sónia; Ferreira, Célia; Ribeiro, Helena; Pinto, Eugénia; Pinto, Fernanda; Sousa, Domingos; Pinto, Eugénia; Ribeiro, Isaura; Laranjeira, Francisco; Coutinho, Maria Francisca; Alves, Sandra; Lacerda, Lúcia
May-2014N-acetylglucosamine-1-phosphate transferase, alpha/beta and gamma subunits; N-acetylglucosamine-1- (GNPTAB, GNPTG)Coutinho, Maria Francisca
Jun-2010Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/betaCoutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Sep-2010Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityCoutinho, Maria Francisca; Encarnação, M.; Gomes, R.; Da Silva Santos, L.; Martins, S.; Sirois-Gagnon, D.; Bargal, R.; Filocamo, M.; Raas-Rothschild, A.; Tappino, B.; Laprise, C.; Curyg, G.K.; Schwartz, I.; Artigalás, O.; Prata, M.; Alves, Sandra
Sep-2013SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong placeCoutinho, Maria Francisca; Lacerda, Lúcia; Gaspar, Ana; Pinto, Eugénia; Ribeiro, Isaura; Laranjeira, Francisco; Ribeiro, Helena; Silva, Elizabete; Ferreira, Célia; Prata, Maria João; Alves, Sandra
Nov-2012A shortcut to the lysosome: the mannose-6-phosphate independent pathwayCoutinho, Maria Francisca; Prata, Maria João; Alves, Sandra
Oct-2013Sortilina e risco de doença cardiovascularCoutinho, Maria Francisca; Bourbon, Mafalda; Prata, Maria João; Alves, Sandra
Nov-2011Sortilin/Neurotensin Receptor 3: Three-dimensional Insights on its Coding VariantsCoutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Prata, Maria João; Alves, Sandra
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