Výsledky vyhľadávania - "Galanello, Renzo"

Beta-thalassemia Autor Galanello, Renzo, Origa, Raffaella

“…Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable…”
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Liver iron concentrations and urinary hepcidin in β-thalassemia Autor ORIGA, Raffaella, GALANELLO, Renzo, GANZ, Tomas, GIAGU, Nicolina, MACCIONI, Liliana, FAA, Gavino, NEMETH, Elizabeta

“…Patients with beta-thalassemia, like those with genetic hemochromatosis, develop iron overload due to increased iron absorption, and their iron burden is…”
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On T2 magnetic resonance and cardiac iron Autor Carpenter, John-Paul, He, Taigang, Kirk, Paul, Roughton, Michael, Anderson, Lisa J, de Noronha, Sofia V, Sheppard, Mary N, Porter, John B, Walker, J Malcolm, Wood, John C, Galanello, Renzo, Forni, Gianluca, Catani, Gualtiero, Matta, Gildo, Fucharoen, Suthat, Fleming, Adam, House, Michael J, Black, Greg, Firmin, David N, St Pierre, Timothy G, Pennell, Dudley J

“…Measurement of myocardial iron is key to the clinical management of patients at risk of siderotic cardiomyopathy. The cardiovascular magnetic resonance…”
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Beta-thalassemia: from genotype to phenotype Autor Danjou, F., Anni, F., Galanello, R.

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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia Autor Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“…beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian…”
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A pilot trial of deferiprone for neurodegeneration with brain iron accumulation Autor Abbruzzese, G., Cossu, G., Balocco, M., Marchese, R., Murgia, D., Melis, M., Galanello, R., Barella, S., Matta, G., Ruffinengo, U., Bonuccelli, U., Forni, G. L.

“…Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of…”
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Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders Autor de Swart, L., Hendriks, J. C. M., van der Vorm, L. N., Cabantchik, Z. I., Evans, P. J., Hod, E. A., Brittenham, G. M., Furman, Y., Wojczyk, B., Janssen, M. C. H., Porter, J. B., Mattijssen, V. E. J. M., Biemond, B. J., MacKenzie, M. A., Origa, R., Galanello, R., Hider, R. C., Swinkels, D. W.

“…Non-transferrin-bound iron and its labile (redox active) plasma iron component are thought to be potentially toxic forms of iron originally identified in the…”
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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Autor Giardine, Belinda, Borg, Joseph, Higgs, Douglas R, Peterson, Kenneth R, Philipsen, Sjaak, Maglott, Donna, Singleton, Belinda K, Anstee, David J, Basak, A Nazli, Clark, Barnaby, Costa, Flavia C, Faustino, Paula, Fedosyuk, Halyna, Felice, Alex E, Francina, Alain, Galanello, Renzo, Gallivan, Monica V E, Georgitsi, Marianthi, Gibbons, Richard J, Giordano, Piero C, Harteveld, Cornelis L, Hoyer, James D, Jarvis, Martin, Joly, Philippe, Kanavakis, Emmanuel, Kollia, Panagoula, Menzel, Stephan, Miller, Webb, Moradkhani, Kamran, Old, John, Papachatzopoulou, Adamantia, Papadakis, Manoussos N, Papadopoulos, Petros, Pavlovic, Sonja, Perseu, Lucia, Radmilovic, Milena, Riemer, Cathy, Satta, Stefania, Schrijver, Iris, Stojiljkovic, Maja, Thein, Swee Lay, Traeger-Synodinos, Jan, Tully, Ray, Wada, Takahito, Waye, John S, Wiemann, Claudia, Zukic, Branka, Chui, David H K, Wajcman, Henri, Hardison, Ross C, Patrinos, George P

“…George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a…”
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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron Autor Melis, Maria Antonietta, Cau, Milena, Congiu, Rita, Sole, Gabriella, Barella, Susanna, Cao, Antonio, Westerman, Mark, Cazzola, Mario, Galanello, Renzo

“…1 Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy 2 Istituto di Neurogenetica e Neurofarmacologia, CNR, Cagliari 3 Ospedale…”
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Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders Autor Angelucci, Emanuele, Barosi, Giovanni, Camaschella, Clara, Cappellini, Maria Domenica, Cazzola, Mario, Galanello, Renzo, Marchetti, Monia, Piga, Antonio, Tura, Sante

“…1 U.O. Ematologia e Centro Trapianti Cellule Staminali Emopietiche, Ospedale Oncologico Regionale "Armando Businco", Cagliari 2 Laboratorio di epidemiologia…”
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Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion Autor DANJOU, Fabrice, ANNI, Franco, PERSEU, Lucia, SATTA, Stefania, DESSI, Carlo, LAI, Maria Eliana, FORTINA, Paolo, DEVOTO, Marcella, GALANELLO, Renzo

“…The clinical and hematologic features of β-thalassemia are modulated by different factors, resulting in a wide range of clinical severity. The main factors are…”
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International reproducibility of single breathhold T2 MR for cardiac and liver iron assessment among five thalassemia centers Autor Kirk, Paul, He, Taigang, Anderson, Lisa J., Roughton, Michael, Tanner, Mark A., Lam, Wynnie W.M., Au, Wing Y., Chu, Winnie C.W., Chan, Godfrey, Galanello, Renzo, Matta, Gildo, Fogel, Mark, Cohen, Alan R., Tan, Ru San, Chen, Kevin, Ng, Ivy, Lai, Angie, Fucharoen, Suthat, Laothamata, Jiraporn, Chuncharunee, Suporn, Jongjirasiri, Sutipong, Firmin, David N., Smith, Gillian C., Pennell, Dudley J.

“…Purpose: To examine the reproducibility of the single breathhold T2* technique from different scanners, after installation of standard methodology in five…”
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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin Autor Satta, S., Perseu, L., Moi, P., Asunis, I., Cabriolu, A., Maccioni, L., Demartis, F. R., Manunza, L., Cao, A., Galanello, R.

“…The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic…”
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A genetic score for the prediction of beta-thalassemia severity Autor Danjou, F., Francavilla, M., Anni, F., Satta, S., Demartis, F.-R., Perseu, L., Manca, M., Sollaino, M. C., Manunza, L., Mereu, E., Marceddu, G., Pissard, S., Joly, P., Thuret, I., Origa, R., Borg, J., Forni, G. L., Piga, A., Lai, M. E., Badens, C., Moi, P., Galanello, R.

“…Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype…”
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Pregnancy and β-thalassemia: an Italian multicenter experience Autor Origa, R., Piga, A., Quarta, G., Forni, G. L., Longo, F., Melpignano, A., Galanello, R.

“…Recent advances in the management of thalassemia have significantly improved life expectancy and quality of life of patients with this hemoglobinopathy, with a…”
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Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia Autor Origa, R., Cazzola, M., Mereu, E., Danjou, F., Barella, S., Giagu, N., Galanello, R., Swinkels, D. W.

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Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction Autor Tanner, Mark A, Galanello, Renzo, Dessi, Carlo, Smith, Gillian C, Westwood, Mark A, Agus, Annalisa, Pibiri, Martina, Nair, Sunil V, Walker, J Malcolm, Pennell, Dudley J

“…Background In thalassemia major (TM), severe cardiac siderosis can be treated by continuous parenteral deferoxamine, but poor compliance, complications and…”
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Post-mortem study of the association between cardiac iron and fibrosis in transfusion dependent anaemia Autor Kirk, Paul, Sheppard, Mary, Carpenter, John-Paul, Anderson, Lisa, He, Taigang, St Pierre, Tim, Galanello, Renzo, Catani, Gualtiero, Wood, John, Fucharoen, Suthat, Porter, John B, Walker, J Malcolm, Forni, Gian Luca, Pennell, Dudley J

“…Heart failure related to cardiac siderosis remains a major cause of death in transfusion dependent anaemias. Replacement fibrosis has been reported as…”
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Onset of cardiac iron loading in pediatric patients with thalassemia major Autor Wood, John C, Origa, Raffaella, Agus, Annalisa, Matta, Gildo, Coates, Thomas D, Galanello, Renzo

“…1 Department of Pediatrics and Radiology, Childrens Hospital Los Angeles, Los Angeles, CA, USA; 2 Departimento di Scienze Biomediche e Biotecnologie, Ospedale…”
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Toward optimizing the use of deferasirox: potential benefits of combined use with deferoxamine Autor Grady, R. W., Galanello, R., Randolph, R. E., Kleinert, D. A., Dessi, C., Giardina, P. J.

“…Patients with β-thalassemia require iron chelation therapy to protect against progressive iron overload and non-transferrin-bound iron. Some patients fail to…”
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