Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
Apr-2012	Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient	Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Wibrand, F.; Lund, A.M.; Johansen, K.B.; Prata, Maria João; Alves, Sandra
20-Oct-2011	Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient	Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Flemming, W; Lund, AM; Johansen, KB; Prata, Maria João; Alves, Sandra
Sep-2011	Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient [Poster]	Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Flemming, Wibrand; Lund, Allan M; Johansen, Klaus B; Prata, Maria João; Alves, Sandra
Sep-2011	Biochemical analysis of GNPTAB missense mutations associated with ML II	da Silva Santos, Liliana; Coutinho, Maria Francisca; Girisha, Katta Mohan; Lacerda, Lúcia; Tappino, Barbara; Stefano, Regis; Filocammo, Mirella; Prata, Maria João; Alves, Sandra
Sep-2009	Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II	Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, Sandra
Nov-2010	Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases	Coutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Aug-2010	Incidence of maple syrup urine disease in Portugal	Quental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria João
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
Dec-2011	Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.	Coutinho, Maria Francisca; Prata, Maria João; Alves, Sandra
23-Dec-2011	Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.	Coutinho, Maria Francisca; 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

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