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Browsing by Subject Lysosomal storage disorders

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Issue DateTitleAuthor(s)
Nov-2004Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCRRodrigues, M.R.; Sá Miranda, M.C.; Amaral, O.
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
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
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