Description of a new mutation in a female patient with Fabry disease - Correia, E.; Vidinha, J.; Rodrigues, B.; Santos, L.; Moreira, D.; Garrido, J.; Miranda, M.C.S.; Cabral, C.; Santos, O. (Mutação de novo causadora de doença de Fabry em paciente do sexo femininoRevista Portuguesa de Cardiologia, 2011)

Enzyme replacement therapy for mucopolysaccharidosis VI: Evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase - Harmatz, P.; Yu, Z.-F.; Giugliani, R.; Schwartz, I.V.D.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; et al. (Journal of Inherited Metabolic Disease, 2010)

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase - Decker, C.; Yu, Z.-F.; Giugliani, R.; Schwartz, I.V.D.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; et al. (Journal of Pediatric Rehabilitation Medicine, 2010)

Gaucher disease in Tunisia: High frequency of the most common mutations - Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Kefi, R.; Messai, H.; Amaral, O.; Miranda, M.C.S.; Caillaud, C.; Tebib, N.; Ben Dridi, M.F.; et al. (Blood Cells, Molecules, and Diseases, 2009)

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 - Harmatz, P.; Giugliani, R.; D. Schwartz, I.V.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.J.; et al. (Molecular Genetics and Metabolism, 2008)

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome - Balreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirão, I.; Lima, J.L.; Azevedo, J.E.; Miranda, M.C.S. (Human Molecular Genetics, 2008)

Calcium phosphate microspheres for localised delivery of a therapeutic enzyme - Barrias, C.C.; Ribeiro, C.C.; Martins, M.C.L.; Barbosa, M.A.; Rodrigues, D.; Miranda, M.C.S. (Key Engineering Materials, 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 - Harmatz, P.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Yu, Z.-F.; Wittes, J.; et al. (Journal of Pediatrics, 2006)

Adsorption of a therapeutic enzyme to self-assembled monolayers: Effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme - Barrias, C.C.; Martins, M.C.L.; Miranda, M.C.S.; Barbosa, M.A. (Biomaterials, 2005)

Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: A new mutation in the ARSA gene - Marcao, A.M.; Wiest, R.; Schinaler, K.; Wiesmann, U.; Weis, J.; Schroth, G.; Miranda, M.C.S.; Sturzenegger, M.; Gieselmann, V. (Archives of Neurology, 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 - Harmatz, P.; Ketteridge, D.; Giugliani, R.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Yu, Z.-F.; Swiedler, S.J.; Hopwood, J.J. (Pediatrics, 2005)

Effect of calcium phosphate addition to alginate microspheres: modulation of enzyme release kinetics and improvement of cell adhesion - Barrias, C.C.; Ribeiro, C.C.; Rodrigues, D.; Miranda, M.C.S.; Barbosa, M.A. (Key Engineering Materials, 2005)