Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Zuppaldi, Alfredo"'
Autor:
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
Publikováno v:
In Molecular Therapy March 2007 15(3):508-514
Akademický článek
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Autor:
M Gabriela Pittis, Andrea Ballabio, Francesca Donaudy, Germana Meroni, Alice Donati, Barbara Rossi, Caterina Porto, Alfredo Zuppaldi, Mirella Filocamo, Massimiliano Rossi, Bruno Bembi, Generoso Andria, Giancarlo Parenti, M Rosaria Tuzzi, Ida Annunziata
Publikováno v:
Molecular Therapy. 15:508-514
We investigated the use of pharmacological chaperones for the therapy of Pompe disease, a metabolic myopathy due to mutations of the gene encoding the lysosomal hydrolase alpha-glucosidase (GAA) and characterized by generalized glycogen storage in ca
Autor:
A. Correra, Filippo M. Santorelli, M. T. Carbone, Carlo Dionisi-Vici, Simona Fecarotta, Pietro Vajro, Giancarlo Parenti, R. Della Casa, Giuliano Torre, A Zuppaldi, G. Andria, Silvia Riva
Publikováno v:
Journal of Inherited Metabolic Disease. 29:186-189
We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertrans