The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts von Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo

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Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase von Flanagan, John J, Rossi, Barbara, Tang, Katherine, Wu, Xiaoyang, Mascioli, Kirsten, Donaudy, Francesca, Tuzzi, Maria Rosaria, Fontana, Federica, Cubellis, Maria Vittoria, Porto, Caterina, Benjamin, Elfrida, Lockhart, David J, Valenzano, Kenneth J, Andria, Generoso, Parenti, Giancarlo, Do, Hung V

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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability von Brunetti-Pierri, Nicola, Andreucci, Maria Vittoria, Tuzzi, Rosaria, Vega, Giovanna Roberta, Gray, George, McKeown, Carol, Ballabio, Andrea, Andria, Generoso, Meroni, Germana, Parenti, Giancarlo

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P16. Deficiency of lysosomal acid alpha-glucosidase in a patient with dystroglycanopathy due to gmppb deficiency von Gragnaniello, Vincenza, Fecarotta, Simona, Tarallo, Antonietta, Damiano, Carla, Minopoli, Nadia, Tuzzi, Rosaria, Della Casa, Roberto, Garozzo, Domenico, Sturiale, Luisa, Barone, Rita, Parenti, Giancarlo, Annual Meeting of the Neapolitan Brain Group 8. <2018, Naples>

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Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease von Porto, Caterina, Pisani, Antonio, Rosa, Margherita, Acampora, Emma, Avolio, Valeria, Tuzzi, Maria Rosaria, Visciano, Bianca, Gagliardo, Cristina, Materazzi, Serena, la Marca, Giancarlo, Andria, Generoso, Parenti, Giancarlo

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Pharmacological Enhancement of Mutated [alpha]-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 von Melis, D, Perone, L, Sperandeo, M P, Sabbatino, M S, Tuzzi, M R, Romano, A, Parenti, G, Andria, G

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