Director of Internal Medicine Unit and Centre for Rare Disease
Physiopathology of iron metabolism: interactions between acquired and genetic factors in the development of iron deficiency and overload in hematological, hepatic and metabolic disorders. 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.
Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis. doi: 10.1111/jgh.13315.
Alterations in sympathetic nerve traffic in genetic haemochromatosis before and after iron depletion therapy: a microneurographic study. doi: 10.1093/eurheartj/ehv696
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. doi: 10.1002/ajh.24202
Simultaneous liver iron and fat measures by magnetic resonance imaging in patients with hyperferritinemia. doi: 10.3109/00365521.2014.940380
Molecular diagnosis of hemochromatosis. doi: 10.1517/17530059.2013.763794