Search Results - Giovanni Duro

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  1. 1

    Dal genotipo al fenotipo by Giovanni Duro, Carmela Zizzo

    Published in Giornale di Clinica Nefrologia e Dialisi (2017-07-01)
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  2. 2

    Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations by Marika Venezia, Martina Vinci, Paolo Colomba, Carmela Zizzo, Giovanni Duro, Marta Moschetti

    Published in Biomedicines (2025-05-01)
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  3. 3

    Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex by Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Giovanni Duro, Monia Anania, Daniele Francofonte, Francesco Di Blasi

    Published in Cells (2025-02-01)
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  4. 4

    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 by Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo

    Published in Frontiers in Genetics (2023-09-01)
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  5. 5

    Corrigendum: 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 by Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo

    Published in Frontiers in Genetics (2024-02-01)
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  6. 6

    Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy by Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina

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  7. 7

    Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case by Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte, Marcomaria Zora, Emanuela Maria Marsana, Giovanni Duro, Salvatore Corrao

    Published in Biology (2022-06-01)
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  8. 8

    The Relationship between the Transforming Growth Factor β1 T29C Gene Polymorphism and Left Ventricular Geometry and Function in Hypertensive Subjects by Rosario Scaglione, Christiano Argano, Giovanni Duro, Tiziana Di Chiara, Domenico Nuzzo, Daniela Colomba, Maria Cristina Fiore, Salvatore Corrao, Giuseppe Licata

    Published in International Journal of Hypertension (2010-01-01)
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  9. 9

    Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders by Martina Vinci, Carmela Zizzo, Marta Moschetti, Miriam Giacomarra, Monia Anania, Giulia Duro, Tiziana Di Chiara, Maria Russo, Elisa Messina, Paolo Colomba, Giovanni Duro

    Published in Biomedicines (2025-04-01)
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  10. 10

    Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area by Carmela Zizzo, Alessandra Testa, Paolo Colomba, Maurizio Postorino, Giuseppe Natale, Alessandro Pini, Daniele Francofonte, Giuseppe Cammarata, Simone Scalia, Serafina Sciarrino, Carmine Zoccali, Giovanni Duro

    Published in Kidney & Blood Pressure Research (2018-08-01)
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  11. 11

    Anderson-Fabry: una malattia rara? by Paolo Colomba, Giuseppe Cammarata, Carmela Zizzo, Simone Scalia, Daniele Francofonte, Riccardo Alessandro, Emanuela Marsana, Lidia Consoli, Serena Guttadauria, Francesco Iemolo, Vincenzo Savica, Giovanni Duro

    Published in Giornale di Clinica Nefrologia e Dialisi (2015-06-01)
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  12. 12

    Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience by Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina

    Published in Biomolecules (2021-06-01)
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  13. 13

    Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience by Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro

    Published in Renal Failure (2025-12-01)
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  14. 14

    Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study by Chiara Longo, Marco Liccari, Ruggero Bacchin, Costanza Papagno, Donatella Ottaviani, Raffaella Di Giacopo, Mauro Catalan, Alina Menichelli, Massimo Marano, Alessio Di Fonzo, Giovanni Duro, Carmela Zizzo, Paolo Manganotti, Bruno Giometto, Maria Chiara Malaguti

    Published in Clinical Parkinsonism & Related Disorders (2025-01-01)
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  15. 15

    Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference by Marta Rubino, Emanuele Monda, Martina Caiazza, Giuseppe Palmiero, Michele Lioncino, Annapaola Cirillo, Adelaide Fusco, Federica Verrillo, Alessia Perna, Gaetano Diana, Federica Amodio, Arturo Cesaro, Giovanni Duro, Berardo Sarubbi, Maria Giovanna Russo, Paolo Calabrò, Giuseppe Limongelli

    Published in Cardiogenetics (2022-02-01)
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  16. 16

    Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease by Alessia Lo Curto, Simona Taverna, Maria Assunta Costa, Rosa Passantino, Giuseppa Augello, Giorgia Adamo, Anna Aiello, Paolo Colomba, Carmela Zizzo, Marco Zora, Giulia Accardi, Giuseppina Candore, Daniele Francofonte, Tiziana Di Chiara, Riccardo Alessandro, Calogero Caruso, Giovanni Duro, Giuseppe Cammarata

    Published in Cells (2021-02-01)
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  17. 17

    miR-126-3p and miR-21-5p as Hallmarks of Bio-Positive Ageing; Correlation Analysis and Machine Learning Prediction in Young to Ultra-Centenarian Sicilian Population by Giulia Accardi, Filippa Bono, Giuseppe Cammarata, Anna Aiello, Maria Trinidad Herrero, Riccardo Alessandro, Giuseppa Augello, Ciriaco Carru, Paolo Colomba, Maria Assunta Costa, Immaculata De Vivo, Mattia Emanuela Ligotti, Alessia Lo Curto, Rosa Passantino, Simona Taverna, Carmela Zizzo, Giovanni Duro, Calogero Caruso, Giuseppina Candore

    Published in Cells (2022-04-01)
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  18. 18

    Prevalence of type I Gaucher disease in patients with smoldering or multiple myeloma: Results from the prospective, observational CHAGAL study by Sonia Morè, Irene Federici, Alessandra Bossi, Serena Rupoli, Erika Morsia, Valentina M. Manieri, Attilio Olivieri, Maria T. Petrucci, Francesca Fazio, Chiara Lisi, Silvia Sorella, Adele D. Paoli, Francesca Farina, Anna Mele, Rossella De Francesco, Antonino Greco, Francesca Fioritoni, Carmine Liberatore, Tommaso Caravita di Toritto, Attilio Tordi, Angela Rago, Agostina Siniscalchi, Marino Brunori, Nicola Sgherza, Pellegrino Musto, Angela Amendola, Angelo Vacca, Antonio G. Solimando, Assunta Melaccio, Antonio Palma, Lorella M. A. Melillo, Lucia Ciuffreda, Silvia Gentili, Gabriele Buda, Maria L. Del Giudice, Antonietta P. Falcone, Patrizia Tosi, Simona Tomassetti, Francesco Rotondo, Alessandro Gozzetti, Piero Galieni, Miriana Ruggieri, Ferdinando Frigeri, Rosario Bianco, Alessandra Lombardo, Fabio Trastulli, Laura Corvatta, Carmela Zizzo, Giovanni Duro, Massimo Offidani

    Published in HemaSphere (2025-01-01)
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