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Author Title [ Type(Desc)] Year
Filters: Author is Miranda, M.C.S.  [Clear All Filters]
Journal Article
Barrias, C. C., Martins, M. C. L., Miranda, M. C. S., & Barbosa, M. A. (2005). Adsorption of a therapeutic enzyme to self-assembled monolayers: Effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme. Biomaterials, 26(15), 2695 - 2704.
Marcao, A. M., Wiest, R., Schinaler, K., Wiesmann, U., et al. (2005). Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: A new mutation in the ARSA gene. Archives of Neurology, 62(2), 309 - 313.
Correia, E., Vidinha, J., Rodrigues, B., Santos, L., et al. (2011). Description of a new mutation in a female patient with Fabry disease. Mutação de novo causadora de doença de Fabry em paciente do sexo femininoRevista Portuguesa de Cardiologia, 30(10), 789 - 793.
Harmatz, P., Ketteridge, D., Giugliani, R., Guffon, N., et al. (2005). Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylga. Pediatrics, 115(6), e681 - e689.
Harmatz, P., Giugliani, R., Schwartz, I., Guffon, N., et al. (2006). Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-l. Journal of Pediatrics, 148(4), 533 - 533.e.
Harmatz, P., Yu, Z. - F., Giugliani, R., Schwartz, I. V. D., et al. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI: Evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of Inherited Metabolic Disease, 33(1), 51 - 60.
Decker, C., Yu, Z. - F., Giugliani, R., Schwartz, I. V. D., et al. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of Pediatric Rehabilitation Medicine, 3(2), 89 - 100.
Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., et al. (2009). Gaucher disease in Tunisia: High frequency of the most common mutations. Blood Cells, Molecules, and Diseases, 43(2), 161 - 162.
Harmatz, P., Giugliani, R., D. Schwartz, I. V., Guffon, N., et al. (2008). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Molecular Genetics and Metabolism, 94(4), 469 - 475.
Balreira, A., Gaspar, P., Caiola, D., Chaves, J., et al. (2008). A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Human Molecular Genetics, 17(14), 2238 - 2243.

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