Percorrer por autor Coutinho, Maria Francisca

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DataTítuloAutor(es)TipoAcesso
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
18-Ago-2015From rare to common and back again: 60 years of lysosomal dysfunctionCoutinho, Maria Francisca; Alves, SandraarticleembargoedAccess
2012Glycosaminoglycan storage disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
5-Out-2011Glycosaminoglycan Storage Disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
Set-2013Lessons learned from mucolipidosis II 'knock-in' mice...Coutinho, Maria FranciscalecturerestrictedAccess
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
19-Mar-2015Lysosome revisited – Connecting Rare and Common IllnessesCoutinho, Maria Francisca; Alves, SandraarticlerestrictedAccess
Dez-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
23-Dez-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
Set-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
4-Set-2013Molecular and biochemical studies in genes determining missorting of lysosomal proteinsCoutinho, Maria FranciscalecturerestrictedAccess
Ago-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
Set-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
Fev-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
Set-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-Fev-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
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, SandraconferenceObjectrestrictedAccess
2007Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIICCoutinho, Maria Francisca; Lacerda, Lúcia; Ribeiro, Helena; Ferreira, Célia; Lopes, Lurdes; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess