Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
1-Mar-2011	Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients	Coutinho, Maria Francisca; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Baptista, Estela; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Mar-2008	Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula	Mangas, Mariana; Nogueira, Célia; Prata, Maria João; Lacerda, Lúcia; Coll, M.J.; Soares, Gabriela; Ribeiro, Gil; Amaral, Olga; Ferreira, Célia; Alves, C.; Coutinho, Maria Francisca; Alves, Sandra
Jul-2009	Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations	Encarnação, Marisa; Lacerda, Lúcia; Costa, Roberto; Prata, Maria João; Coutinho, Maria Francisca; Ribeiro, Helena; Lopes, Lurdes; Pineda, M.; Ignatius, J.; Galvez, H.; Mustonen, A.; Vieira, P.; Lima, Margarida Reis; Alves, Sandra
Aug-2008	Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.	Coutinho, Maria Francisca; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Lopes, Lurdes; Ferreira, Célia; Alves, Sandra
Sep-2008	Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and Galactosialidosis	Coutinho, Maria Francisca; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Alves, Sandra
Feb-2009	Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and Galactosialidosis.	Coutinho, Maria Francisca; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Alves, Sandra
Sep-2009	Molecular 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-2009	Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking	Coutinho, 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-2010	Molecular 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
2007	Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIIC	Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra
Feb-2008	Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIIC	Coutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, Sandra
May-2012	Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene	Coutinho, Maria Francisca; da Silva Santos, Liliana; Girisha, K.M.; Satyamoorthy, K.; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra
Jun-2010	Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta	Coutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Nov-2011	Sortilin/Neurotensin Receptor 3: Three-dimensional Insights on its Coding Variants	Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Prata, Maria João; Alves, Sandra

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