Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Prevalence of lysosomal storage diseases in Portugal
PINTO, Rui, CASEIRO, Carla, RIBEIRO, Isaura, LACERDA, Lucia, RIBEIRO, Gil, AMARAL, Olga, SA MIRANDA, M. C, LEMOS, Manuela, LOPES, Lurdes, FONTES, Augusta, RIBEIRO, Helena, PINTO, Eugénia, SILVA, Elisabete, ROCHA, Sonia, MARCAO, Ana
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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Effect of single-nucleotide polymorphisms of the 5′ untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians
Oliveira, J. P., Ferreira, S., Barceló, J., Gaspar, P., Carvalho, F., Sá Miranda, M. C., Månsson, J.-E.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme
Barrias, C. C., Lamghari, M., Granja, P. L., Sá Miranda, M. C., Barbosa, M. A.
Published in Journal of biomedical materials research. Part A (15.09.2005)
Published in Journal of biomedical materials research. Part A (15.09.2005)
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Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
Bessa, C., Teixeira, C.A.F., Mangas, M., Dias, A., Sá Miranda, M.C., Guimarães, A., Ferreira, J.C., Canas, N., Cabral, P., Ribeiro, M.G.
Published in Molecular genetics and metabolism (01.11.2006)
Published in Molecular genetics and metabolism (01.11.2006)
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Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice
Rodrigues, L.G, Ferraz, M.J, Rodrigues, D, Pais-Vieira, M, Lima, D, Brady, R.O, Sousa, M.M, Sá-Miranda, M.C
Published in Neurobiology of disease (01.01.2009)
Published in Neurobiology of disease (01.01.2009)
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Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology
Teixeira, C.A.F., Lin, S., Mangas, M., Quinta, R., Bessa, C.J.P., Ferreira, C., Sá Miranda, M.C., Boustany, R-M.N., Ribeiro, M.G.
Published in Biochimica et biophysica acta (01.07.2006)
Published in Biochimica et biophysica acta (01.07.2006)
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The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement
Cox, T. M., Aerts, J. M. F. G., Andria, G., Beck, M., Belmatoug, N., Bembi, B., Chertkoff, R., Vom Dahl, S., Elstein, D., Erikson, A., Giralt, M., Heitner, R., Hollak, C., Hrebicek, M., Lewis, S., Mehta, A., Pastores, G. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.
Published in Journal of inherited metabolic disease (01.09.2003)
Published in Journal of inherited metabolic disease (01.09.2003)
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Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin
Amaral, Olga, Lacerda, Lucia, Marcão, Ana, Pinto, Eugénia, Tamagnini, Gabriel, Miranda, MC Sá
Published in Clinical genetics (01.07.1999)
Published in Clinical genetics (01.07.1999)
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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
Ribeiro, I, Marcão, A, Amaral, O, Sá Miranda, M C, Vanier, M T, Millat, G
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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Molecular diagnosis of Gaucher disease in Tunisia
Cherif, W, Ben Turkia, H, Ben Rhouma, F, Riahi, I, Chemli, J, Amaral, O, Sá Miranda, M C, Caillaud, C, Kaabachi, N, Tebib, N, Abdelhak, S, Ben Dridi, M F
Published in Pathologie biologie (Paris) (01.04.2013)
Published in Pathologie biologie (Paris) (01.04.2013)
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Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil
Rozenberg, R, Kok, F, Burin, M G, Sá Miranda, M C, Vasques, C, Henriques-Souza, A M M, Giugliani, R, Vainzof, Mariz, Pereira, L V
Published in Journal of child neurology (01.06.2006)
Published in Journal of child neurology (01.06.2006)
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Adult-onset neuronopathic form of Gaucher's disease: a case report
Guimarães, J., Amaral, O., Sá Miranda, M.C.
Published in Parkinsonism & related disorders (01.06.2003)
Published in Parkinsonism & related disorders (01.06.2003)
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Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T
Marcão, Ana, Azevedo, Jorge E, Gieselmann, Volkmar, Sá Miranda, M.C
Published in Biochemical and biophysical research communications (20.06.2003)
Published in Biochemical and biophysical research communications (20.06.2003)
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Prevalence of lysosomal storage diseases in Portugal
Pinto, Rui, Caseiro, Carla, Lemos, Manuela, Lopes, Lurdes, Fontes, Augusta, Ribeiro, Helena, Pinto, Eugénia, Silva, Elisabete, Rocha, Sónia, Marcão, Ana, Ribeiro, Isaura, Lacerda, Lúcia, Ribeiro, Gil, Amaral, Olga, Sá Miranda, M C
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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Journal Article
Diagnostic moléculaire de la maladie de Gaucher en Tunisie
Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M.C., Caillaud, C., Kaabachi, N., Tebib, N., Abdelhak, S., Ben Dridi, M.F.
Published in Pathologie biologie (Paris) (01.04.2013)
Published in Pathologie biologie (Paris) (01.04.2013)
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