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MAIN RESEARCH INTEREST
1. Physiopathology of iron metabolism: interactions between acquired and genetic factors in the development of iron deficiency and overload in hematological, hepatic and metabolic disorders.
2. Inherited and rare disorders: molecular genetics and pathogenesis of hemochromatosis and other hereditary and acquired iron disorders. Genotype/phenotype correlation in hemochromatosis. Inherited metabolic diseases.
MAJOR SCIENTIFIC ACHIEVEMENTS
Prevalence and distribution of iron overload in chronic viral hepatitis. Role of HFE mutations in the development of iron overload in chronic viral hepatitis and porphyria cutanea tarda. First evidence of the genetic heterogeneity of hemochromatosis. Identification of new mutations in several hereditary iron overload disorders. Hepcidin expression in hemochromatosis and other iron overload disorders. Iron and hypoxia link.
1. Physiopathology of iron metabolism: interactions between acquired and genetic factors in the development of iron deficiency and overload in hematological, hepatic and metabolic disorders.
2. Inherited and rare disorders: molecular genetics and pathogenesis of hemochromatosis and other hereditary and acquired iron disorders. Genotype/phenotype correlation in hemochromatosis. Inherited metabolic diseases.
MAJOR SCIENTIFIC ACHIEVEMENTS
Prevalence and distribution of iron overload in chronic viral hepatitis. Role of HFE mutations in the development of iron overload in chronic viral hepatitis and porphyria cutanea tarda. First evidence of the genetic heterogeneity of hemochromatosis. Identification of new mutations in several hereditary iron overload disorders. Hepcidin expression in hemochromatosis and other iron overload disorders. Iron and hypoxia link.
研究兴趣
论文共 207 篇作者统计合作学者相似作者
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British journal of haematologyno. 1 (2024): 306-314
Elsevier eBookspp.267-281, (2024)
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BRITISH JOURNAL OF HAEMATOLOGYno. 1 (2024): 306-314
Ilona Kleine Budde, Cristina Díaz De Heredia,Raffaella Mariani,Alberto Piperno,Katja Moser,Mayka Sanchez,Thomas Bodewes, Maya Isaila
Blood (2023): 922
Ivan Civettini,Paola Corti, Arianna Zappaterra, Amedeo Messina,Andrea Aroldi,Andrea Biondi,Fabrizio Cavalca, Francesca Crosti,Giulia Maria Ferrari,Luca Mologni,Alberto Piperno,Daniele Ramazzotti,
BLOOD (2023): 5273
The American Journal of Human Geneticsno. 8 (2023): 1436-1443
Anna Bertolini,Miriam Rigoldi, Annalia Cianflone,Raffaella Mariani,Alberto Piperno,Francesco Canonico,Graziella Cefalo,Francesca Carubbi,Alessandro Simonati,Maria Letizia Urban,Tommaso Beccari,Rossella Parini
Clinical dysmorphologyno. 1 (2023): 1-8
medRxiv (Cold Spring Harbor Laboratory) (2022)
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