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Author Title [ Type(Desc)] Year
Filters: Author is Sá Miranda, M.C.  [Clear All Filters]
Journal Article
Rodrigues, M. R., Sá Miranda, M. C., & Amaral, O. (2004). Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR. Blood Cells, Molecules, and Diseases, 33(3), 362 - 364.
Balreira, A., MacEdo, M. F., Girão, C., Rodrigues, L. G., et al. (2008). Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients. British Journal of Haematology, 143(4), 601 - 604.
Barrias, C. C., Lamghari, M., Granja, P. L., Sá Miranda, M. C., & Barbosa, M. A. (2005). Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme. Journal of Biomedical Materials Research - Part A, 74(4), 545 - 552.
Rozenberg, R., Kok, F., Burin, M. G., Sá Miranda, M. C., et al. (2006). Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil. Journal of Child Neurology, 21(6), 540 - 544.
Teixeira, C. A. F., Lin, S., Mangas, M., Quinta, R., et al. (2006). Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1762(7), 637 - 646.
Karageorgos, L., Brooks, D. A., Pollard, A., Melville, E. L., et al. (2007). Mutational analysis of 105 mucopolysaccharidosis type VI patients. Human Mutation, 28(9), 897 - 903.
Pinto, R., Caseiro, C., Lemos, M., Lopes, L., et al. (2004). Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics, 12(2), 87 - 92.
Vairo, F., Netto, C., Tirelli, K. M., Siebert, M., et al. (2013). Screening of high-risk Gaucher disease patients using dried blood spots techniques. Gene, 523(1), 114 - 115.
Swiedler, S. J., Beck, M., Bajbouj, M., Giugliani, R., et al. (2005). Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). American Journal of Medical Genetics, 134 A(2), 144 - 150.
Bessa, C., Teixeira, C. A. F., Mangas, M., Dias, A., et al. (2006). Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency. Molecular Genetics and Metabolism, 89(3), 245 - 253.

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