Sfoglia per Autore
Neuronopathic Gaucher Disease.
2016-01-01 Sestito, S.; Falvo, F.; Grisolia, M.; Nicoletti, A.; Pascale, E.; Moricca, M. T.; Esposito, S.; Salpietro, V. b.; Polizzi, A.; Ruggieri, M.; Concolino, D.
Neurological Findings in Anderson-Fabry Disease (Review
2016-01-01 Nicoletti, A; Sestito, S; Falvo, F; Mascaro, I; Moricca, Mt; Salpietro, V; Polizzi, A; Ruggieri, M; Bruno, M. F.; Concolino, D
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review
2016-01-01 Falvo, F; Sestito, S; Nicoletti, A; Grisolia, M; Mascaro, I; Pascale, E; Salpietro, V; Polizzi, A; Ruggieri, M; Concolino, D
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview
2016-01-01 Grisolia, M; Sestito, S; Ceravolo, F; Invernizzi, F. b.; Salpietro, V; Polizzi, A; Ruggieri, M; Garavaglia, B; Concolino, D
Neurological Involvement in Inherited Metabolic Diseases: An Overview
2016-01-01 Ceravolo, F; Sestito, S; Falvo, F; Salpietro, V; Polizzi, A; Ruggieri, M; Bruno M, F. f.; Concolino, D
Gastrointestinal Symptoms of Patients with Fabry Disease
2016-01-01 Pensabene, L; Sestito, S; Nicoletti, A; Graziano, F; Strisciuglio, P; Concolino, D
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
2017-01-01 Sestito, S; Filocamo, M; Ceravolo, F; Falvo, F; Grisolia, M; Moricca, Mt; Cantaffa, R; Grossi, S; Strisciuglio, P; Concolino, D
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report
2017-01-01 Ceravolo, F; Grisolia, M; Sestito, S; Falvo, F; Moricca, Mt; Concolino, D
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (IF 5.168)
2017-01-01 Scionti, F; Di Martino, Mt; Sestito, S; Nicoletti, A; Falvo, F; Roppa, K; Arbitrio, M; Guzzi, Ph; Agapito, G; Pisani, A; Riccio, E; Concolino, D; Pensabene, L The last two authors contributed equally to this work and share senior authorship
Genetics and Gene Therapy in Hunter Disease
2018-01-01 Sestito, S; Falvo, F; Scozzafava, C; Apa, R; Pensabene, L; Bonapace, G; Moricca, Mt; Concolino, D
Parapelvic cysts, a distinguishing feature of renal Fabry disease.
2018-01-01 Pisani, A; Petruzzelli Annicchiarico, L; Pellegrino, A; Bruzzese, D; Feriozzi, S; Imbriaco, M; Tedeschi, E; Cocozza, S; De Rosa, D; Mignani, R; Veroux, M; Battaglia, Y; Concolino, D; Sestito, S; Pieruzzi, F; Caroti, L; Manna, R; Zizzo, C; Santangelo, M; Sabbatini, M; Riccio, E.
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
2019-01-01 Concolino, D; Sestito, S; Falvo, F; Romano, G; Ceravolo, M; Anastasio, E; Pensabene, L; Colombo, Ea; Larizza, L
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature.
2019-01-01 Bruni, V; Roppa, K; Scionti, F; Apa, R; Sestito, S; DI MARTINO, MARIA TERESA; Pensabene, L; Concolino, D
Alport's syndrome
2019-01-01 Bruni, V; Petrisano, M; Tarsitano, F; Falvo, F; Parisi, F; Cucinotta, U; Betta, P; Di Benedetto, V; Scuderi, M G; Pensabene, L; Sestito, S; Cuppari, C; Fede, C; Chimenz, R; Concolino, D
Renal involvement in paediatric Fabry disease
2019-01-01 Sestito, S; Falvo, F; Sallemi, A; Petrisano, M; Scuderi, M G; Tarsitano, F; D'Angelo, G; Betta, P; Roppa, K; Parisi, F; Pensabene, L; Fede, C; Chimenz, R; Concolino, D
Werner syndrome: a rare mutation
2019-01-01 Castagna, A.; Gareri, P.; Falvo, F.; Sestito, S.; Rocca, M.; Pensabene, L.; Concolino, D.; Coppolino, G.; Ruotolo, G.
Prevalence of elevated pulmonary artery systolic pressure in Down Syndrome young patients with and without congenital heart disease
2020-01-01 Nicoletti, A.; Vatrano, M.; Sestito, S.; Apa, R.; Patroniti, S.; Ceravolo, G.; Calabro, M. P.; Parisi, F.; Roppa, K.; De Sarro, R.; Gitto, E.; Pensabene, L.; Concolino, D.
Anderson-Fabry disease in children: The importance of early diagnosis
2020-01-01 Sestito, S.; Roppa, K.; Petrisano, M.; Pensabene, L.; Parisi, F.; Moricca, M. T.; Concolino, D.
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants
2020-01-01 Sestito, S; D’Auria, E; Baldassarre, Me; Salvatore, S; Tallarico, V; Stefanelli, E; Tarsitano, F; Concolino, D; Pensabene, L.
Dilated cardiomyopathy in mucolipidosis type 2
2020-01-01 Carboni, E.; Sestito, S.; Lucente, M.; Morrone, A.; Zampini, L.; Chimenz, R.; Ceravolo, M. D.; De Sarro, R.; Ceravolo, G.; Calabro, M. P.; Parisi, F.; Moricca, M. T.; Pensabene, L.; Musolino, D.; Concolino, D.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Neuronopathic Gaucher Disease. | 1-gen-2016 | Sestito, S.; Falvo, F.; Grisolia, M.; Nicoletti, A.; Pascale, E.; Moricca, M. T.; Esposito, S.; Salpietro, V. b.; Polizzi, A.; Ruggieri, M.; Concolino, D. | |
Neurological Findings in Anderson-Fabry Disease (Review | 1-gen-2016 | Nicoletti, A; Sestito, S; Falvo, F; Mascaro, I; Moricca, Mt; Salpietro, V; Polizzi, A; Ruggieri, M; Bruno, M. F.; Concolino, D | |
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review | 1-gen-2016 | Falvo, F; Sestito, S; Nicoletti, A; Grisolia, M; Mascaro, I; Pascale, E; Salpietro, V; Polizzi, A; Ruggieri, M; Concolino, D | |
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview | 1-gen-2016 | Grisolia, M; Sestito, S; Ceravolo, F; Invernizzi, F. b.; Salpietro, V; Polizzi, A; Ruggieri, M; Garavaglia, B; Concolino, D | |
Neurological Involvement in Inherited Metabolic Diseases: An Overview | 1-gen-2016 | Ceravolo, F; Sestito, S; Falvo, F; Salpietro, V; Polizzi, A; Ruggieri, M; Bruno M, F. f.; Concolino, D | |
Gastrointestinal Symptoms of Patients with Fabry Disease | 1-gen-2016 | Pensabene, L; Sestito, S; Nicoletti, A; Graziano, F; Strisciuglio, P; Concolino, D | |
Norrbottnian clinical variant of Gaucher disease in Southern Italy. | 1-gen-2017 | Sestito, S; Filocamo, M; Ceravolo, F; Falvo, F; Grisolia, M; Moricca, Mt; Cantaffa, R; Grossi, S; Strisciuglio, P; Concolino, D | |
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report | 1-gen-2017 | Ceravolo, F; Grisolia, M; Sestito, S; Falvo, F; Moricca, Mt; Concolino, D | |
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (IF 5.168) | 1-gen-2017 | Scionti, F; Di Martino, Mt; Sestito, S; Nicoletti, A; Falvo, F; Roppa, K; Arbitrio, M; Guzzi, Ph; Agapito, G; Pisani, A; Riccio, E; Concolino, D; Pensabene, L The last two authors contributed equally to this work and share senior authorship | |
Genetics and Gene Therapy in Hunter Disease | 1-gen-2018 | Sestito, S; Falvo, F; Scozzafava, C; Apa, R; Pensabene, L; Bonapace, G; Moricca, Mt; Concolino, D | |
Parapelvic cysts, a distinguishing feature of renal Fabry disease. | 1-gen-2018 | Pisani, A; Petruzzelli Annicchiarico, L; Pellegrino, A; Bruzzese, D; Feriozzi, S; Imbriaco, M; Tedeschi, E; Cocozza, S; De Rosa, D; Mignani, R; Veroux, M; Battaglia, Y; Concolino, D; Sestito, S; Pieruzzi, F; Caroti, L; Manna, R; Zizzo, C; Santangelo, M; Sabbatini, M; Riccio, E. | |
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. | 1-gen-2019 | Concolino, D; Sestito, S; Falvo, F; Romano, G; Ceravolo, M; Anastasio, E; Pensabene, L; Colombo, Ea; Larizza, L | |
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. | 1-gen-2019 | Bruni, V; Roppa, K; Scionti, F; Apa, R; Sestito, S; DI MARTINO, MARIA TERESA; Pensabene, L; Concolino, D | |
Alport's syndrome | 1-gen-2019 | Bruni, V; Petrisano, M; Tarsitano, F; Falvo, F; Parisi, F; Cucinotta, U; Betta, P; Di Benedetto, V; Scuderi, M G; Pensabene, L; Sestito, S; Cuppari, C; Fede, C; Chimenz, R; Concolino, D | |
Renal involvement in paediatric Fabry disease | 1-gen-2019 | Sestito, S; Falvo, F; Sallemi, A; Petrisano, M; Scuderi, M G; Tarsitano, F; D'Angelo, G; Betta, P; Roppa, K; Parisi, F; Pensabene, L; Fede, C; Chimenz, R; Concolino, D | |
Werner syndrome: a rare mutation | 1-gen-2019 | Castagna, A.; Gareri, P.; Falvo, F.; Sestito, S.; Rocca, M.; Pensabene, L.; Concolino, D.; Coppolino, G.; Ruotolo, G. | |
Prevalence of elevated pulmonary artery systolic pressure in Down Syndrome young patients with and without congenital heart disease | 1-gen-2020 | Nicoletti, A.; Vatrano, M.; Sestito, S.; Apa, R.; Patroniti, S.; Ceravolo, G.; Calabro, M. P.; Parisi, F.; Roppa, K.; De Sarro, R.; Gitto, E.; Pensabene, L.; Concolino, D. | |
Anderson-Fabry disease in children: The importance of early diagnosis | 1-gen-2020 | Sestito, S.; Roppa, K.; Petrisano, M.; Pensabene, L.; Parisi, F.; Moricca, M. T.; Concolino, D. | |
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants | 1-gen-2020 | Sestito, S; D’Auria, E; Baldassarre, Me; Salvatore, S; Tallarico, V; Stefanelli, E; Tarsitano, F; Concolino, D; Pensabene, L. | |
Dilated cardiomyopathy in mucolipidosis type 2 | 1-gen-2020 | Carboni, E.; Sestito, S.; Lucente, M.; Morrone, A.; Zampini, L.; Chimenz, R.; Ceravolo, M. D.; De Sarro, R.; Ceravolo, G.; Calabro, M. P.; Parisi, F.; Moricca, M. T.; Pensabene, L.; Musolino, D.; Concolino, D. |
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