Search Results - "Miranda, M. Clara Sa"

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase by Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J, Plecko, Barbara, Steiner, Robert, Whitley, Chester B, Kaplan, Paige, Swiedler, Stuart J, Hardy, Karen, Berger, Kenneth I, Decker, Celeste

“…Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme…”
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Mutational analysis of 105 mucopolysaccharidosis type VI patients by Karageorgos, Litsa, Brooks, Doug A., Pollard, Anthony, Melville, Elizabeth L., Hein, Leanne K., Clements, Peter R., Ketteridge, David, Swiedler, Stuart J., Beck, Michael, Giugliani, Roberto, Harmatz, Paul, Wraith, James E., Guffon, Nathalie, Leão Teles, Elisa, Sá Miranda, M. Clara, Hopwood, John J.

“…Mucopolysaccharidosis type VI (MPS VI; Maroteaux‐Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐4‐sulfatase…”
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula by Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel

“…Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics…”
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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-label extension study by Harmatz, Paul, Giugliani, Roberto, Schwartz, Ida, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Yu, Zi-Fan, Wittes, Janet, Berger, Kenneth I., Newman, Mary S., Lowe, Ann M., Kakkis, Emil, Swiedler, Stuart J.

“…The objective of this Phase 3 study was to confirm the efficacy and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type…”
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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-Acetylgalactosamine 4-Sulfatase by Harmatz, Paul, Ketteridge, David, Giugliani, Roberto, Guffon, Natalie, Teles, Elisa Leao, Miranda, M. Clara Sa, Yu, Zi-Fan, Swiedler, Stuart J, Hopwood, John J, MPS VI Study Group

“…Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine…”
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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 by Harmatz, Paul, Giugliani, Roberto, D. Schwartz, Ida Vanessa, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B., Kaplan, Paige, Yu, Zi-Fan, Swiedler, Stuart J., Decker, Celeste

“…The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of…”
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Kidney histologic alterations in α-Galactosidase-deficient mice by Valbuena, Carmen, Oliveira, João Paulo, Carneiro, Fátima, Relvas, Sandra, Ganhão, Mariana, Sá-Miranda, M. Clara, Rodrigues, Lorena G.

“…Fabry disease is a rare X-linked disorder caused by mutations in the α-galactosidase gene ( GLA ), the resultant deficiency of lysosomal α-galactosidase enzyme…”
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Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings by Chaves, João, Beirão, Idalina, Balreira, Andrea, Gaspar, Paulo, Caiola, Daniel, Sá-Miranda, M. Clara, Lima, José L

“…Abstract Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A…”
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Description of a new mutation in a female patient with Fabry disease by Correia, Emanuel, Vidinha, Joana, Rodrigues, Bruno, Santos, Luís, Moreira, Davide, Garrido, Jesus, Clara Sá Miranda, M, Cabral, Costa, Santos, Oliveira

“…Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically…”
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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) by Swiedler, Stuart J., Beck, Michael, Bajbouj, Manal, Giugliani, Roberto, Schwartz, Ida, Harmatz, Paul, Wraith, James E., Roberts, Jane, Ketteridge, David, Hopwood, John J., Guffon, Nathalie, Sá Miranda, M. Clara, Teles, Elisa Leão, Berger, Kenneth I., Piscia-Nichols, Cheri

“…A cross‐sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics,…”
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Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease by Casal, J Antonio, Lacerda, Lúcia, Pérez, Luis F, Pinto, Rui A, Clara Sá Miranda, M, Carlos Tutor, J

“…We studied 44 patients with type 1 Gaucher's disease (16 non-treated patients and 28 treated with enzyme replacement therapy). We measured serum levels of…”
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Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations by Marcão, Ana, Simonis, Heidi, Schestag, Frank, Sá Miranda, M. Clara, Gieselmann, Volkmar

“…Metachromatic leukodystrophy (OMIM 250100) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA, EC 3.1.6.8). This disease affects…”
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Mutação de novo causadora de doença de Fabry em paciente do sexo feminino by Emanuel Correia, Joana Vidinha, Bruno Rodrigues, Luís Santos, Davide Moreira, Jesus Garrido, M. Clara Sá Miranda, Costa Cabral, Oliveira Santos

“…Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA…”
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Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme by Barrias, Cristina C., Martins, Ma Cristina L., Miranda, Ma Clara Sá, Barbosa, Mário A.

“…The adsorption of a therapeutic enzyme to self-assembled monolayers (SAMs) of different functionalities (X=CH3-, OH- and COOH-) was evaluated as a function of…”
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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI : results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase by Harmatz, Paul, Ketteridge, David, Giugliani, Roberto, Guffon, Natalie, Teles, Elisa Leao, Miranda, M. Clara Sa, Yu, Zi-Fan, Swiedler, Stuart J, Hopwood, John J

“…Objective. Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine…”
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Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular Characteristics by Ferreira, Helena, Seppala, Raili, Pinto, Rui, Huizing, Marjan, Martins, Esmeralda, Braga, Ana Cristina, Gomes, Lourenco, Krasnewich, Donna M., Sa Miranda, M.Clara, Gahl, William A.

“…Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to…”
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Kidney histologic alterations in [alpha]-Galactosidase-deficient mice by Valbuena, Carmen, Oliveira, João Paulo, Carneiro, Fátima, Relvas, Sandra, Ganhão, Mariana, Sá-miranda, M Clara, Rodrigues, Lorena G

“…Fabry disease is a rare X-linked disorder caused by mutations in the α-galactosidase gene (GLA), the resultant deficiency of lysosomal α-galactosidase enzyme…”
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Description of a new mutation in a female patient with Fabry disease by Correia, Emanuel, Vidinha, Joana, Rodrigues, Bruno, Santos, Luís, Moreira, Davide, Garrido, Jesus, Clara Sá Miranda, M, Cabral, Costa, Santos, Oliveira

“…Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically…”
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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts by Van Weely, S, Van Leeuwen, M B, Jansen, I D, De Bruijn, M A, Brouwer-Kelder, E M, Schram, A W, Sa Miranda, M C, Barranger, J A, Petersen, E M, Goldblatt, J

“…We have investigated several parameters of glucocerebrosidase in cultured skin fibroblasts from patients with various clinical phenotypes of Gaucher disease…”
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Mutação de novo causadora de doença de Fabry em paciente do sexo feminino by Correia, Emanuel, Vidinha, Joana, Rodrigues, Bruno, Santos, Luís, Moreira, Davide, Garrido, Jesus, Clara Sá Miranda, M., Cabral, Costa, Santos, Oliveira

“…A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22). Classicamente…”
Get full text