COLOMBA, PAOLO
COLOMBA, PAOLO
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience
2025 Battaglia, Y.; Baciga, F.; Shakkour, M.; Russo, S.; Carnicella, G.; Erlati, M.; Sartori, G.; Tronconi, G.; Mignani, R.; Pieruzzi, F.; Colomba, P.; Scichilone, L.; Andreucci, M.; Sessa, C.; Duro, G.
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex
2025 Biddeci, G.; Spinelli, G.; Colomba, P.; Duro, G.; Anania, M.; Francofonte, D.; Di Blasi, F.
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression
2025 Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; Duro, Giovanni; Giacalone, Irene; Di Blasi, Francesco
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
2025 Moschetti, M.; Venezia, M.; Giacomarra, M.; Marsana, E. M.; Zizzo, C.; Duro, G.; D'Errico, A.; Colomba, P.; Duro, G.
Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease
2025 Anania, M.; Pieruzzi, F.; Giacalone, I.; Trezzi, B.; Marsana, E. M.; Roggero, L.; Francofonte, D.; Stefanoni, M.; Vinci, M.; Zizzo, C.; Zora, M.; Di Chiara, T.; Duro, G.; Duro, G.; Colomba, P.
Identification of Novel Mutations in Patients Affected by Gaucher Disease
2025 Anania, Monia; Giacomarra, Miriam; D'Errico, Annalisa; Marano, Massimo; Tartaglione, Immacolata; Spada, Marco; Pagliardini, Veronica; De Paolis, Maria Rosaria; Giuffrida, Gaetano; Duro, Giulia; Di Chiara, Tiziana; Francofonte, Daniele; Marsana, Emanuela Maria; Colomba, Paolo; Duro, Giovanni; Zizzo, Carmela
Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations
2025 Venezia, M.; Vinci, M.; Colomba, P.; Zizzo, C.; Duro, G.; Moschetti, M.
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders
2025 Vinci, M.; Zizzo, C.; Moschetti, M.; Giacomarra, M.; Anania, M.; Duro, G.; Di Chiara, T.; Russo, M.; Messina, E.; Colomba, P.; Duro, G.
The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study
2025 Giacalone, I.; Ruzzi, L.; Anania, M.; Cuonzo, M.; Marsana, E. M.; Mastrippolito, S.; Francofonte, D.; Bucco, S.; D'Errico, A.; Longo, M. O.; Zizzo, C.; Iarlori, L.; Duro, G.; Colomba, P.
VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies
2025 Corrao, S.; Moschetti, M.; Scibetta, S.; Calvo, L.; Giardina, A.; Cangemi, I.; Zizzo, C.; Colomba, P.; Duro, G.
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.
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
2024 Moschetti, M; Lo Curto, A; Giacomarra, M; Francofonte, D; Zizzo, C; Messina, E; Duro, G; Colomba, P.
Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease
2023 Simonetta, I.; Riolo, R.; Todaro, F.; Donadio, V.; Incensi, A.; Miceli, S.; Colomba, P.; Duro, G.; Tuttolomondo, A.
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease
2023 Esposito, Pasquale; Caputo, Carmela; Repetto, Monica; Somaschini, Alberto; Bellone, Pietro; Colomba, Paolo; Zizzo, Carmela; Parodi, Angelica; Zanetti, Valentina; Canepa, Marco; Eustachi, Virginia; Sanguineri, Francesca; Mandich, Paola; Viazzi, Francesca
Halloysite Nanotubes and Sepiolite for Health Applications
2023 Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; DI BLASI, Francesco
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
2023 Marotto, Daniela; Moschetti, Marta; Lo Curto, Alessia; Spezzigu, Anna M.; Giacomarra, Miriam; Marsana, Emanuela M.; Zizzo, Carmela; Duro, Giovanni; Colomba, Paolo
Novel Pathogenic Variant of Fabry Disease in a Family with Parapelvic Cysts
2023 Greco, Rosita; Mollica, Francesco; Divilio, Rosalba; Colomba, Paolo; Zizzo, Carmela; Papalia, Teresa
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women
2023 Cristiana Faro, Denise; Losi, Valentina; Rodolico, MARGHERITA STEFANIA; Mariateresa Torrisi, Elvira; Colomba, Paolo; Duro, Giovanni; Paola Monte, Ines
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience | 1-gen-2025 | Battaglia, Y.; Baciga, F.; Shakkour, M.; Russo, S.; Carnicella, G.; Erlati, M.; Sartori, G.; Tronconi, G.; Mignani, R.; Pieruzzi, F.; Colomba, P.; Scichilone, L.; Andreucci, M.; Sessa, C.; Duro, G. | |
| Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex | 1-gen-2025 | Biddeci, G.; Spinelli, G.; Colomba, P.; Duro, G.; Anania, M.; Francofonte, D.; Di Blasi, F. | |
| Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression | 1-gen-2025 | Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; Duro, Giovanni; Giacalone, Irene; Di Blasi, Francesco | |
| Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease | 1-gen-2025 | Moschetti, M.; Venezia, M.; Giacomarra, M.; Marsana, E. M.; Zizzo, C.; Duro, G.; D'Errico, A.; Colomba, P.; Duro, G. | |
| Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease | 1-gen-2025 | Anania, M.; Pieruzzi, F.; Giacalone, I.; Trezzi, B.; Marsana, E. M.; Roggero, L.; Francofonte, D.; Stefanoni, M.; Vinci, M.; Zizzo, C.; Zora, M.; Di Chiara, T.; Duro, G.; Duro, G.; Colomba, P. | |
| Identification of Novel Mutations in Patients Affected by Gaucher Disease | 1-gen-2025 | Anania, Monia; Giacomarra, Miriam; D'Errico, Annalisa; Marano, Massimo; Tartaglione, Immacolata; Spada, Marco; Pagliardini, Veronica; De Paolis, Maria Rosaria; Giuffrida, Gaetano; Duro, Giulia; Di Chiara, Tiziana; Francofonte, Daniele; Marsana, Emanuela Maria; Colomba, Paolo; Duro, Giovanni; Zizzo, Carmela | |
| Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations | 1-gen-2025 | Venezia, M.; Vinci, M.; Colomba, P.; Zizzo, C.; Duro, G.; Moschetti, M. | |
| Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders | 1-gen-2025 | Vinci, M.; Zizzo, C.; Moschetti, M.; Giacomarra, M.; Anania, M.; Duro, G.; Di Chiara, T.; Russo, M.; Messina, E.; Colomba, P.; Duro, G. | |
| The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study | 1-gen-2025 | Giacalone, I.; Ruzzi, L.; Anania, M.; Cuonzo, M.; Marsana, E. M.; Mastrippolito, S.; Francofonte, D.; Bucco, S.; D'Errico, A.; Longo, M. O.; Zizzo, C.; Iarlori, L.; Duro, G.; Colomba, P. | |
| VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies | 1-gen-2025 | Corrao, S.; Moschetti, M.; Scibetta, S.; Calvo, L.; Giardina, A.; Cangemi, I.; Zizzo, C.; Colomba, P.; Duro, G. | |
| 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. | |
| Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study | 1-gen-2024 | Moschetti, M; Lo Curto, A; Giacomarra, M; Francofonte, D; Zizzo, C; Messina, E; Duro, G; Colomba, P. | |
| Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease | 1-gen-2023 | Simonetta, I.; Riolo, R.; Todaro, F.; Donadio, V.; Incensi, A.; Miceli, S.; Colomba, P.; Duro, G.; Tuttolomondo, A. | |
| Diagnosing Fabry nephropathy: the challenge of multiple kidney disease | 1-gen-2023 | Esposito, Pasquale; Caputo, Carmela; Repetto, Monica; Somaschini, Alberto; Bellone, Pietro; Colomba, Paolo; Zizzo, Carmela; Parodi, Angelica; Zanetti, Valentina; Canepa, Marco; Eustachi, Virginia; Sanguineri, Francesca; Mandich, Paola; Viazzi, Francesca | |
| Halloysite Nanotubes and Sepiolite for Health Applications | 1-gen-2023 | Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; DI BLASI, Francesco | |
| Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion | 1-gen-2023 | Marotto, Daniela; Moschetti, Marta; Lo Curto, Alessia; Spezzigu, Anna M.; Giacomarra, Miriam; Marsana, Emanuela M.; Zizzo, Carmela; Duro, Giovanni; Colomba, Paolo | |
| Novel Pathogenic Variant of Fabry Disease in a Family with Parapelvic Cysts | 1-gen-2023 | Greco, Rosita; Mollica, Francesco; Divilio, Rosalba; Colomba, Paolo; Zizzo, Carmela; Papalia, Teresa | |
| Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women | 1-gen-2023 | Cristiana Faro, Denise; Losi, Valentina; Rodolico, MARGHERITA STEFANIA; Mariateresa Torrisi, Elvira; Colomba, Paolo; Duro, Giovanni; Paola Monte, Ines | |
| 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 |