FRANCOFONTE, DANIELE
FRANCOFONTE, DANIELE
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
2024 Duro, G.; Anania, M.; Zizzo, C.; Francofonte, D.; Giacalone, I.; D'Errico, A.; Marsana, E. M.; Colomba, P.
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
2024 Giacomarra, M.; Colomba, P.; Francofonte, D.; Zora, M.; Caocci, G.; Diomede, D.; Giuffrida, G.; Fiori, L.; Montanari, C.; Sapuppo, A.; Scortechini, A. R.; Vitturi, N.; Duro, G.; Zizzo, C.
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case
2022 Zizzo, C; Ruggeri, I; Colomba, P; Argano, C; Francofonte, D; Zora, M; Marsana, Em; Duro, G; Corrao, S
Pompe disease: pathogenesis, molecular genetics and diagnosis
2020 Taverna, Simona; Cammarata, Giuseppe; Colomba, Paolo; Sciarrino, Serafina; Zizzo, Carmela; Francofonte, Daniele; Zora, Marco; Scalia, Simone; Brando, Chiara; Lo Curto, Alessia; Maria Marsana, Emanuela; Olivieri, Roberta; Vitale, Silvia; Duro, Giovanni
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
2018 Duro, G; Zizzo, C; Cammarata, G; Burlina, A; Burlina, A; Polo, G; Scalia, S; Oliveri, R; Sciarrino, S; Francofonte, D; Alessandro, R; Pisani, A; Palladino, G; Napoletano, R; Tenuta, M; Masarone, D; Limongelli, G; Riccio, E; Frustaci, A; Chimenti, C; Ferri, C; Pieruzzi, F; Pieroni, M; Spada, M; Castana, C; Caserta, M; Monte, I; Rodolico, Ms; Feriozzi, S; Battaglia, Y; Amico, L; Losi, Ma; Autore, C; Lombardi, M; Zoccali, C; Testa, A; Postorino, M; Mignani, R; Zachara, E; Giordano, A; Colomba, P
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area
2018 Zizzo, Carmela; Testa, Alessandra; Colomba, Paolo; Postorino, Maurizio; Natale, Giuseppe; Pini, Alessandro; Francofonte, Daniele; Cammarata, Giuseppe; Scalia, Simone; Sciarrino, Serafina; Zoccali, Carmine; Duro, Giovanni
Fabry disease, a complex pathology not easy to diagnose
2015 Colomba, P; Scalia, S; Cammarata, G; Zizzo, C; Francofonte, D; Savica, V; Alessandro, R; Iemolo, F; Duro, G
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings
2013 Cigna, D; D'Anna, C; Zizzo, C; Francofonte, D; Sorrentino, I; Colomba, P; Albeggiani, G; Armini, A; Bianchi, L; Bini, L; Duro, G
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.
2013 Cigna, D; D'Anna, C; Zizzo, C; Francofonte, D; Sorrentino, I; Colomba, P; Albeggiani, G; Armini, A; Bianchi, L; Bini, L; Duro, G
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease
2012 Colomba, P; Nucera, A; Zizzo, C; Albeggiani, G; Francofonte, D; Iemolo, F; Tuttolomondo, A; Pinto, A; Duro, G
Genetic screening of Fabry patients with EcoTILLING and HRM technology
2011 Bono, C; Nuzzo, D; Albeggiani, G; Zizzo, C; Francofonte, D; Iemolo, F; Sanzaro, E; Duro, G
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
2011 Bono, C; Nuzzo, D; Albeggiani, G; Zizzo, C; Francofonte, D; Iemolo, F; Sanzaro, E; Duro, G
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients | 1-gen-2024 | Duro, G.; Anania, M.; Zizzo, C.; Francofonte, D.; Giacalone, I.; D'Errico, A.; Marsana, E. M.; Colomba, P. | |
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis | 1-gen-2024 | Giacomarra, M.; Colomba, P.; Francofonte, D.; Zora, M.; Caocci, G.; Diomede, D.; Giuffrida, G.; Fiori, L.; Montanari, C.; Sapuppo, A.; Scortechini, A. R.; Vitturi, N.; Duro, G.; Zizzo, C. | |
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case | 1-gen-2022 | Zizzo, C; Ruggeri, I; Colomba, P; Argano, C; Francofonte, D; Zora, M; Marsana, Em; Duro, G; Corrao, S | |
Pompe disease: pathogenesis, molecular genetics and diagnosis | 1-gen-2020 | Taverna, Simona; Cammarata, Giuseppe; Colomba, Paolo; Sciarrino, Serafina; Zizzo, Carmela; Francofonte, Daniele; Zora, Marco; Scalia, Simone; Brando, Chiara; Lo Curto, Alessia; Maria Marsana, Emanuela; Olivieri, Roberta; Vitale, Silvia; Duro, Giovanni | |
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? | 1-gen-2018 | Duro, G; Zizzo, C; Cammarata, G; Burlina, A; Burlina, A; Polo, G; Scalia, S; Oliveri, R; Sciarrino, S; Francofonte, D; Alessandro, R; Pisani, A; Palladino, G; Napoletano, R; Tenuta, M; Masarone, D; Limongelli, G; Riccio, E; Frustaci, A; Chimenti, C; Ferri, C; Pieruzzi, F; Pieroni, M; Spada, M; Castana, C; Caserta, M; Monte, I; Rodolico, Ms; Feriozzi, S; Battaglia, Y; Amico, L; Losi, Ma; Autore, C; Lombardi, M; Zoccali, C; Testa, A; Postorino, M; Mignani, R; Zachara, E; Giordano, A; Colomba, P | |
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area | 1-gen-2018 | Zizzo, Carmela; Testa, Alessandra; Colomba, Paolo; Postorino, Maurizio; Natale, Giuseppe; Pini, Alessandro; Francofonte, Daniele; Cammarata, Giuseppe; Scalia, Simone; Sciarrino, Serafina; Zoccali, Carmine; Duro, Giovanni | |
Fabry disease, a complex pathology not easy to diagnose | 1-gen-2015 | Colomba, P; Scalia, S; Cammarata, G; Zizzo, C; Francofonte, D; Savica, V; Alessandro, R; Iemolo, F; Duro, G | |
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings | 1-gen-2013 | Cigna, D; D'Anna, C; Zizzo, C; Francofonte, D; Sorrentino, I; Colomba, P; Albeggiani, G; Armini, A; Bianchi, L; Bini, L; Duro, G | |
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. | 1-gen-2013 | Cigna, D; D'Anna, C; Zizzo, C; Francofonte, D; Sorrentino, I; Colomba, P; Albeggiani, G; Armini, A; Bianchi, L; Bini, L; Duro, G | |
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease | 1-gen-2012 | Colomba, P; Nucera, A; Zizzo, C; Albeggiani, G; Francofonte, D; Iemolo, F; Tuttolomondo, A; Pinto, A; Duro, G | |
Genetic screening of Fabry patients with EcoTILLING and HRM technology | 1-gen-2011 | Bono, C; Nuzzo, D; Albeggiani, G; Zizzo, C; Francofonte, D; Iemolo, F; Sanzaro, E; Duro, G | |
Genetic screening of Fabry patients with EcoTILLING and HRM technology. | 1-gen-2011 | Bono, C; Nuzzo, D; Albeggiani, G; Zizzo, C; Francofonte, D; Iemolo, F; Sanzaro, E; Duro, G |