Browsing by Author Prata, Maria João

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Issue DateTitleAuthor(s)TypeAccess Type
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, SandraarticleopenAccess
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, SandraarticlerestrictedAccess
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, SandraconferenceObjectrestrictedAccess
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, SandraconferenceObjectrestrictedAccess
Sep-2009Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type IICoutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, SandraconferenceObjectrestrictedAccess
Dec-2015Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Alves, SandraarticleopenAccess
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, SandraconferenceObjectrestrictedAccess
Dec-2015Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Perez, Belén; Alves, SandraarticleembargoedAccess
Aug-2010Incidence of maple syrup urine disease in PortugalQuental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria JoãoarticlerestrictedAccess
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, SandraarticlerestrictedAccess
Dec-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
23-Dec-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
Sep-2013Molecular analyses of genes involved in mannose 6-phosphate independent traffickingCoutinho, Maria Francisca; Lacerda, Lúcia; Pinto, Eugénia; Ribeiro, Helena; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
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, SandraarticlerestrictedAccess
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, SandraarticlerestrictedAccess
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, SandraarticlerestrictedAccess
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, SandraconferenceObjectrestrictedAccess
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, SandraconferenceObjectopenAccess
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, SandraconferenceObjectrestrictedAccess
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, SandraconferenceObjectrestrictedAccess