Sfoglia per Autore
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
2022 BRUNETTI PIERRI, Nicola; 1 2, M. D.; Ferla, Rita; h. D. 1., P; 2, ; Ginocchio, virginia maria; D., M.; h. D. 1., P; 2, ; Rossi, Alessandro; D., M.; h. D. 2., P; Fecarotta, Simona; D., M.; h. D. 3., P; Romano, Roberta; D. 2., M.; Parenti, Giancarlo; 1 2, M. D.; Yildiz, Yilmaz; D., M.; h. D. 4., P; Zancan, Stefano; Sc. 5., M.; Pecorella, Valentina; Sc. 1., M.; Dell’Anno, Margherita; Sc. 1., M.; 2, ; Graziano, Mafalda; Sc. 1., M.; Alliegro, Marialuisa; Sc. 1., M.; Andria, Generoso; D. 2., M.; Santamaria, Francesca; D. 2., M.; Brunetti-Pierri, Raffaella; D., M.; h. D. 6., P; Simonelli, Francesca; D. 6., M.; Nigro, Vincenzo; 1 7, M. D.; Vargas, Maria; D. 8., M.; Servillo, Giuseppe; D. 8., M.; Borgia, Francesco; D. 9., M.; Soscia, Ernesto; 10, M. D.; Gargaro, Marco; 11, Ph. D.; Funghini, Silvia; 12, Ph. D.; Tedesco, Novella; 13, M. Sc.; 14, ; Romain Le Brun, Pierre; 13, M. Sc.; 14, ; Rupar, Charles A.; h. D., P; 15, F. C. C. M. G.; Prasad, Chitra; D. F. R. C. P., M.; 15, F. C. C. M. G.; O’Callaghan, Mar; D., M.; 16, Ph. D.; Mitchell, John J.; D., M.; 17, F. R. C. P.; 18, ; Danos, Olivier; 19, Ph. D.; Marteau, Jean-Brice; 20, Ph. D.; Galimberti, Stefania; 21, Ph. D.; Grazia Valsecchi, Maria; 21, Ph. D.; Veron, Philippe; 13, Ph. D.; 14, ; Mingozzi, Federico; 13, Ph. D.; Fallarino, Francesca; 11, Ph. D.; la Marca, Giancarlo; 12, Pharm. Sc.; 22, ; Serap Sivri, H.; D. 4., M.; Alberto Auricchio, And; D. 1., M.
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report
2018 Fecarotta, S; Gragnaniello, Vincenza; Della Casa, R; Romano, A; Raiano, E; Torella, A; Savarese, M; Nigro, V; Strisciuglio, P; Andria, G; Parenti, G
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management
2017 Russo, P.; Andria, G.; Baldinelli, A.; Boffi, M. L.; Cerini, E.; Della Casa, R.; Imperatori, A.; Luciani, G. B.; Morra, E.; Parini, R.; Pieroni, M.; Prioli, M. A.; Ragni, L.; Rapezzi, C.; Rinelli, G.; Rubino, M.; Sarais, C.; Sciacca, P.; Seddio, F.; Limongelli, G.
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function
2017 Melis, Daniela; Carbone, Fortunata; Minopoli, Giorgia; La Rocca, Claudia; Perna, Francesco; De Rosa, Veronica; Galgani, Mario; Andria, Generoso; Parenti, Giancarlo; Matarese, Giuseppe
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis
2016 Melis, Daniela; Rossi, Alessandro; Pivonello, Rosario; DEL PUENTE, Antonio; Pivonello, Claudia; Cangemi, Giuliana; Negri, Mariarosaria; Colao, Annamaria; Andria, Generoso; Parenti, Giancarlo
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib
2016 Melis, D.; Minopoli, G.; Balivo, F.; Marcolongo, P.; Parini, R.; Paci, S.; Dionisi-Vici, C.; Della Casa, R.; Benedetti, A.; Andria, G.; Parenti, G.
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
2016 Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
2015 Ferla, R; Claudiani, P; Savarese, M; Kozarsky, K.; Parini, R; Scarp, a M; Donati, Ma; Sorge, G; Hopwood, Jj; Parenti, Giancarlo; Fecarotta, S; Nigro, V; Sivri, Hs; Van Der Ploeg, A; Andria, Generoso; BRUNETTI PIERRI, Nicola; Auricchio, Alberto
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
2015 Scala, I.; Concolino, D.; Della Casa, R.; Nastasi, A.; Ungaro, C.; Paladino, S.; Capaldo, B.; Ruoppolo, M.; Daniele, A.; Bonapace, G.; Strisciuglio, P.; Parenti, G.; Andria, G.
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study
2015 Melis, Daniela; Cozzolino, Mariarosaria; Minopoli, Giorgia; Balivo, Francesca; Parini, Rossella; Rigoldi, Miriam; Paci, Sabrina; Dionisi Vici, Carlo; Burlina, Alberto; Andria, Generoso; Parenti, Giancarlo
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
2015 Melis, Daniela; Rossi, A; Pivonello, R; Salerno, Mariacarolina; Balivo, Francesca; Spadarella, Simona; Muscogiuri, G; Casa, Rd; Formisano, Pietro; Andria, Generoso; Colao, Annamaria; Parenti, Giancarlo
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
2015 Rossi, Massimiliano; Hall, Christine M; Bouvier, Raymonde; Collardeau Frachon, Sophie; Le Breton, Frédérique; Bucourt, Martine; Cordier, Marie Pierre; Vianey Saban, Christine; Parenti, Giancarlo; Andria, Generoso; Le Merrer, Martine; Edery, Patrick; Offiah, Amaka C.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
2015 Fecarotta, Simona; Romano, Alfonso; DELLA CASA, Roberto; DEL GIUDICE, Ennio; Bruschini, Diana; Mansi, Giuseppina; Bembi, Bruno; Dardis, Andrea; Fiumara, Agata; Di Rocco, Maja; Uziel, Graziella; Ardissone, Anna; Roccatello, Dario; Alpa, Mirella; Bertini, Enrico; D'Amico, Adele; Dionisi Vici, Carlo; Deodato, Federica; Caviglia, Stefania; Federico, Antonio; Palmeri, Silvia; Gabrielli, Orazio; Santoro, Lucia; Filla, Alessandro; Russo, Cinzia; Parenti, Giancarlo; Andria, Generoso
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease
2014 Pisani, Antonio; Porto, C; Andria, Generoso; Parenti, Giancarlo
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.
2014 Fontana, P; Genesio, R; Casertano, A; Cappuccio, G; Mormile, A; Nitsch, Lucio; Iolascon, Achille; Andria, Generoso; Melis, D.
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity
2014 Melis, Daniela; DELLA CASA, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review.
2014 Cappuccio, G; Genesio, R; Ronga, V; Casertano, A; Izzo, A; Riccio, Mp; Bravaccio, C; Salerno, M; Nitsch, L; Andria, G; Melis, D.
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
2014 Melis, Daniela; Pivonello, Rosario; Cozzolino, M; DELLA CASA, Roberto; Balivo, Francesca; DEL PUENTE, Antonio; Dionisi Vici, C; Cotugno, G; Zuppaldi, C; Rigoldi, M; Parini, R; Colao, Annamaria; Andria, Generoso; Parenti, Giancarlo
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy
2014 Parenti, Giancarlo; Fecarotta, Simona; la Marca, G; Rossi, B; Ascione, Serena; Donati, Ma; Morandi, Lo; Ravaglia, S; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; De Filippi, P; Danesino, C; DELLA CASA, Roberto; Romano, Alfonso; Mollica, Carmine; Rosa, M; Agovino, T; Nusco, E; Porto, Caterina; Andria, Generoso
Pharmacological chaperone therapy for lysosomal storage diseases
2014 Parenti, Giancarlo; Moracci, Marco; Fecarotta, Simona; Andria, Generoso
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
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Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI | 1.1 Articolo in rivista | 2022 | BRUNETTI PIERRI, Nicola; 1 2, M. D.; Ferla, Rita; h. D. 1., P; 2, ; Ginocchio, virginia maria; D., M.; h. D. 1., P; 2, ; Rossi, Alessandro; D., M.; h. D. 2., P; Fecarotta, Simona; D., M.; h. D. 3., P; Romano, Roberta; D. 2., M.; Parenti, Giancarlo; 1 2, M. D.; Yildiz, Yilmaz; D., M.; h. D. 4., P; Zancan, Stefano; Sc. 5., M.; Pecorella, Valentina; Sc. 1., M.; Dell’Anno, Margherita; Sc. 1., M.; 2, ; Graziano, Mafalda; Sc. 1., M.; Alliegro, Marialuisa; Sc. 1., M.; Andria, Generoso; D. 2., M.; Santamaria, Francesca; D. 2., M.; Brunetti-Pierri, Raffaella; D., M.; h. D. 6., P; Simonelli, Francesca; D. 6., M.; Nigro, Vincenzo; 1 7, M. D.; Vargas, Maria; D. 8., M.; Servillo, Giuseppe; D. 8., M.; Borgia, Francesco; D. 9., M.; Soscia, Ernesto; 10, M. D.; Gargaro, Marco; 11, Ph. D.; Funghini, Silvia; 12, Ph. D.; Tedesco, Novella; 13, M. Sc.; 14, ; Romain Le Brun, Pierre; 13, M. Sc.; 14, ; Rupar, Charles A.; h. D., P; 15, F. C. C. M. G.; Prasad, Chitra; D. F. R. C. P., M.; 15, F. C. C. M. G.; O’Callaghan, Mar; D., M.; 16, Ph. D.; Mitchell, John J.; D., M.; 17, F. R. C. P.; 18, ; Danos, Olivier; 19, Ph. D.; Marteau, Jean-Brice; 20, Ph. D.; Galimberti, Stefania; 21, Ph. D.; Grazia Valsecchi, Maria; 21, Ph. D.; Veron, Philippe; 13, Ph. D.; 14, ; Mingozzi, Federico; 13, Ph. D.; Fallarino, Francesca; 11, Ph. D.; la Marca, Giancarlo; 12, Pharm. Sc.; 22, ; Serap Sivri, H.; D. 4., M.; Alberto Auricchio, And; D. 1., M. | |
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report | 1.1 Articolo in rivista | 2018 | Fecarotta, S; Gragnaniello, Vincenza; Della Casa, R; Romano, A; Raiano, E; Torella, A; Savarese, M; Nigro, V; Strisciuglio, P; Andria, G; Parenti, G | |
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management | 1.1 Articolo in rivista | 2017 | Russo, P.; Andria, G.; Baldinelli, A.; Boffi, M. L.; Cerini, E.; Della Casa, R.; Imperatori, A.; Luciani, G. B.; Morra, E.; Parini, R.; Pieroni, M.; Prioli, M. A.; Ragni, L.; Rapezzi, C.; Rinelli, G.; Rubino, M.; Sarais, C.; Sciacca, P.; Seddio, F.; Limongelli, G. | |
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function | 1.1 Articolo in rivista | 2017 | Melis, Daniela; Carbone, Fortunata; Minopoli, Giorgia; La Rocca, Claudia; Perna, Francesco; De Rosa, Veronica; Galgani, Mario; Andria, Generoso; Parenti, Giancarlo; Matarese, Giuseppe | |
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis | 1.1 Articolo in rivista | 2016 | Melis, Daniela; Rossi, Alessandro; Pivonello, Rosario; DEL PUENTE, Antonio; Pivonello, Claudia; Cangemi, Giuliana; Negri, Mariarosaria; Colao, Annamaria; Andria, Generoso; Parenti, Giancarlo | |
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib | 1.1 Articolo in rivista | 2016 | Melis, D.; Minopoli, G.; Balivo, F.; Marcolongo, P.; Parini, R.; Paci, S.; Dionisi-Vici, C.; Della Casa, R.; Benedetti, A.; Andria, G.; Parenti, G. | |
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants | 1.1 Articolo in rivista | 2016 | Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela | |
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. | 1.1 Articolo in rivista | 2015 | Ferla, R; Claudiani, P; Savarese, M; Kozarsky, K.; Parini, R; Scarp, a M; Donati, Ma; Sorge, G; Hopwood, Jj; Parenti, Giancarlo; Fecarotta, S; Nigro, V; Sivri, Hs; Van Der Ploeg, A; Andria, Generoso; BRUNETTI PIERRI, Nicola; Auricchio, Alberto | |
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. | 1.1 Articolo in rivista | 2015 | Scala, I.; Concolino, D.; Della Casa, R.; Nastasi, A.; Ungaro, C.; Paladino, S.; Capaldo, B.; Ruoppolo, M.; Daniele, A.; Bonapace, G.; Strisciuglio, P.; Parenti, G.; Andria, G. | |
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study | 1.1 Articolo in rivista | 2015 | Melis, Daniela; Cozzolino, Mariarosaria; Minopoli, Giorgia; Balivo, Francesca; Parini, Rossella; Rigoldi, Miriam; Paci, Sabrina; Dionisi Vici, Carlo; Burlina, Alberto; Andria, Generoso; Parenti, Giancarlo | |
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. | 1.1 Articolo in rivista | 2015 | Melis, Daniela; Rossi, A; Pivonello, R; Salerno, Mariacarolina; Balivo, Francesca; Spadarella, Simona; Muscogiuri, G; Casa, Rd; Formisano, Pietro; Andria, Generoso; Colao, Annamaria; Parenti, Giancarlo | |
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis | 1.1 Articolo in rivista | 2015 | Rossi, Massimiliano; Hall, Christine M; Bouvier, Raymonde; Collardeau Frachon, Sophie; Le Breton, Frédérique; Bucourt, Martine; Cordier, Marie Pierre; Vianey Saban, Christine; Parenti, Giancarlo; Andria, Generoso; Le Merrer, Martine; Edery, Patrick; Offiah, Amaka C. | |
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C | 1.1 Articolo in rivista | 2015 | Fecarotta, Simona; Romano, Alfonso; DELLA CASA, Roberto; DEL GIUDICE, Ennio; Bruschini, Diana; Mansi, Giuseppina; Bembi, Bruno; Dardis, Andrea; Fiumara, Agata; Di Rocco, Maja; Uziel, Graziella; Ardissone, Anna; Roccatello, Dario; Alpa, Mirella; Bertini, Enrico; D'Amico, Adele; Dionisi Vici, Carlo; Deodato, Federica; Caviglia, Stefania; Federico, Antonio; Palmeri, Silvia; Gabrielli, Orazio; Santoro, Lucia; Filla, Alessandro; Russo, Cinzia; Parenti, Giancarlo; Andria, Generoso | |
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease | 1.1 Articolo in rivista | 2014 | Pisani, Antonio; Porto, C; Andria, Generoso; Parenti, Giancarlo | |
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. | 1.1 Articolo in rivista | 2014 | Fontana, P; Genesio, R; Casertano, A; Cappuccio, G; Mormile, A; Nitsch, Lucio; Iolascon, Achille; Andria, Generoso; Melis, D. | |
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity | 1.1 Articolo in rivista | 2014 | Melis, Daniela; DELLA CASA, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo | |
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. | 1.1 Articolo in rivista | 2014 | Cappuccio, G; Genesio, R; Ronga, V; Casertano, A; Izzo, A; Riccio, Mp; Bravaccio, C; Salerno, M; Nitsch, L; Andria, G; Melis, D. | |
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. | 1.1 Articolo in rivista | 2014 | Melis, Daniela; Pivonello, Rosario; Cozzolino, M; DELLA CASA, Roberto; Balivo, Francesca; DEL PUENTE, Antonio; Dionisi Vici, C; Cotugno, G; Zuppaldi, C; Rigoldi, M; Parini, R; Colao, Annamaria; Andria, Generoso; Parenti, Giancarlo | |
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy | 1.1 Articolo in rivista | 2014 | Parenti, Giancarlo; Fecarotta, Simona; la Marca, G; Rossi, B; Ascione, Serena; Donati, Ma; Morandi, Lo; Ravaglia, S; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; De Filippi, P; Danesino, C; DELLA CASA, Roberto; Romano, Alfonso; Mollica, Carmine; Rosa, M; Agovino, T; Nusco, E; Porto, Caterina; Andria, Generoso | |
Pharmacological chaperone therapy for lysosomal storage diseases | 1.1 Articolo in rivista | 2014 | Parenti, Giancarlo; Moracci, Marco; Fecarotta, Simona; Andria, Generoso |
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