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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Pineda, M.
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| Issue Date | Title | Author(s) | | 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 |
| Nov-2010 | Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency | Urreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.; Pineda, M.; González, V.; Artuch, R.; Baldellou, A.; Vilarinho, L.; Fowler, B.; Ribes, A.; Sánchez-Jiménez, F.; Grinberg, D.; Balcells, S. |
Showing results 1 to 2 of 2
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