Pietrangelo A, Sampietro M, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341:725–732.

Camaschella C, Roetto A, Calì A, et al. The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet. 2000;25:14–15.

Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001;108:619–623.

Pietrangelo A, Caleffi A, Herion J,   et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology. 2005;128:470–479.

Pietrangelo A, Dierssen U, Valli L, et al. STAT3 is required for IL-6–gp130–dependent activation of hepcidin in vivo. Gastroenterology. 2007;132:294–308.

Andriopoulos B Jr, Corradini E, Xia Y, et al. BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nat Genet. 2009;41:482–487.

Corradini E, Schmidt PJ, Meynard D, et al. BMP6 treatment compensates for the molecular defect and ameliorates hemochromatosis in Hfe knockout mice. Gastroenterology. 2010;139:172–181.

Vecchi C, Montosi G, Garuti C, et al. Gluconeogenic signals regulate iron homeostasis via hepcidin in mice. Gastroenterology. 2014;146:1060–1069.

Canali S, Vecchi C, Garuti C, et al. The SMAD Pathway Is Required for Hepcidin Response During Endoplasmic Reticulum Stress. Endocrinology. 2016;157(10):3935–3945.

Sabelli M, Montosi G, Garuti C, et al. Human macrophage ferroportin biology and the basis for the ferroportin disease. Hepatology. 2017;65(5):1512–1525.

Brissot P, Pietrangelo A, Adams PC, et al. Haemochromatosis. Nat Rev Dis Primers. 2018;4:18016.

Buzzetti E, Petta S, Manuguerra R, et al. Evaluating the association of serum ferritin and hepatic iron with disease severity in non-alcoholic fatty liver disease. Liver International, 2019 Jul;39(7):1325-1334

Balwani M, Sardh E, Ventura P, et al. Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. N Engl J Med. 2020;382(24):2289–2301.

Corradini E, Buzzetti E, Dongiovanni P, et al. Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD. J Hepatol. 2021; 75(3):506-513.

Ekaputri S, Choi EK, Sabelli M, et al. A small molecule redistributes iron in ferroportin-deficient mice and patient-derived primary macrophages. Proc Natl Acad Sci U S A. 2022;119(26):e2121400119.

Valenti L, Corradini E, Adams LA, et al. Consensus Statement on the definition and classification of metabolic hyperferritinaemia. Nat Rev Endocrinol. 2023;19(5):299–310.

Ricci A, Corradini E, Buzzetti E, et al. Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. Hepatol Commun. 2025;9(12):e0822.

Leaf RK, Ricci A, Tran B, et al. Haematological parameters in erythropoietic protoporphyria: A multi-national study. Br J Haematol. 2025.