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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Encarnação, Marisa
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | | 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 |
| 2012 | Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients | Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura |
| 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 |
| 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 | 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 |
Showing results 1 to 6 of 6
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