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Issue DateTitleAuthor(s)
Apr-2012Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta PatientCoutinho, 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-2011Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patientCoutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Flemming, W; Lund, AM; Johansen, KB; Prata, Maria João; Alves, Sandra
Sep-2011Alu-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-2011Biochemical analysis of GNPTAB missense mutations associated with ML IIda Silva Santos, Liliana; Coutinho, Maria Francisca; Girisha, Katta Mohan; Lacerda, Lúcia; Tappino, Barbara; Stefano, Regis; Filocammo, Mirella; Prata, Maria João; Alves, Sandra
Nov-2010Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous casesCoutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
2012Glycosaminoglycan storage disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, Sandra
5-Oct-2011Glycosaminoglycan Storage Disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, Sandra
1-Mar-2011Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patientsCoutinho, Maria Francisca; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Baptista, Estela; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Sep-2013Molecular analyses of genes involved in mannose 6-phosphate independent traffickingCoutinho, Maria Francisca; Lacerda, Lúcia; Pinto, Eugénia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Mar-2008Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian PeninsulaMangas, 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-2009Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutationsEncarnação, 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-2008Molecular 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-2008Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and GalactosialidosisCoutinho, Maria Francisca; Lacerda, Lúcia; Prata, Maria João; Ribeiro, Helena; Alves, Sandra
Feb-2009Molecular 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-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
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
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