Search Results - "Sa Miranda, M.Clara"

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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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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Thermodynamic characterisation of the mutated isoenzyme A of β- N-acetylhexosaminidase in GM2-gangliosidosis B1 variant by Pérez, Luis F., Ribeiro, Helena M., Casal, J.Antonio, Pinto, Rui A., Sá Miranda, M.Clara, Tutor, J.Carlos

“…Here we report the determination of the activation energies of the plasma isoenzymes of β- N-acetylhexosaminidase (Hex, EC 3.2.1.52), isolated by…”
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