Search Results - "Avolio, Valeria"

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine by Porto, Caterina, Ferrara, Maria C, Meli, Massimiliano, Acampora, Emma, Avolio, Valeria, Rosa, Margherita, Cobucci-Ponzano, Beatrice, Colombo, Giorgio, Moracci, Marco, Andria, Generoso, Parenti, Giancarlo

“…Pompe disease (PD) is a metabolic myopathy due to the deficiency of the lysosomal enzyme α-glucosidase (GAA). The only approved treatment for this disorder,…”
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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 by 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

“…Fabry disease (FD) is an X-linked inherited disease due to alpha-galactosidase A (alpha-Gal A) deficiency and characterized by lysosomal storage of…”
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene by Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela

“…Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone…”
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Pharmacological Enhancement of [alpha]-Glucosidase by the Allosteric Chaperone N-acetylcysteine by Porto, Caterina, Ferrara, Maria C, Meli, Massimiliano, Acampora, Emma, Avolio, Valeria, Rosa, Margherita, Cobucci-ponzano, Beatrice, Colombo, Giorgio, Moracci, Marco, Andria, Generoso, Parenti, Giancarlo

“…Pompe disease (PD) is a metabolic myopathy due to the deficiency of the lysosomal enzyme α-glucosidase (GAA). The only approved treatment for this disorder,…”
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene by Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela

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S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease by Parenti, Giancarlo, Porto, Caterina, Acampora, Emma, Avolio, Valeria, Gagliardo, Cristina, Rosa, Margherita, Fecarotta, Simona, Andria, Generoso

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