2 results match your criteria: "Centre for Rare Disease-Disorders of Iron Metabolism[Affiliation]"
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
Am J Hum Genet
August 2023
Centre for Rare Disease - Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network - EuroBloodNet, Monza, Italy; Centro Ricerca Tettamanti, Monza, Italy. Electronic address:
Hyperferritinemia is a frequent finding in several conditions, both genetic and acquired. We previously studied eleven healthy subjects from eight different families presenting with unexplained hyperferritinemia. Their findings suggested the existence of an autosomal-recessive disorder.
View Article and Find Full Text PDFHereditary Hyperferritinemia.
Int J Mol Sci
January 2023
Centre for Rare Disease-Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network-EuroBloodNet, 20900 Monza, Italy.
Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The major and common role of ferritin is to bind Fe, oxidize it and sequester it in a safe form in the cell, and to release iron according to cellular needs. Ferritin is also present at a considerably low proportion in normal mammalian sera and is relatively iron poor compared to tissues.
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