Next Generation Sequencing Allows Identification of a Novel Mutation in the <i>TfR2</i> Gene and Outperforms the Conventional Diagnostic Techniques. [PDF]
EJHaemABSTRACT Introduction Type 3 hereditary hemochromatosis (HH) is a rare genetic disease due to mutations in the transferrin receptor 2 (TFR2) gene. Methods and Results Here, we describe the case of an Italian patient presenting with hyperferritinemia and hepatic iron accumulation, not evidenced by magnetic resonance imaging, that was subsequently ...
Longo M +9 more
europepmc +2 more sources
Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors [PDF]
, 2000 Paul C. Adams +5 more
openalex +1 more source
Radial artery wall alterations in genetic hemochromatosis before and after iron depletion therapy [PDF]
, 2000 Monica Failla +7 more
openalex +1 more source
Venous thromboembolism related to cytomegalovirus infection: A case report and literature review [PDF]
, 2017 Farrell, John J +3 more
core +2 more sources
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Nature Genetics, 2004 G. Papanikolaou +23 more
semanticscholar +1 more source
Inflammatory bowel disease and hereditary hemochromatosis: A case series. [PDF]
JPGN RepFein J, Hildreth A, Choi LJ, Huang JS.
europepmc +1 more source
Phlebotomy Increases Cadmium Uptake in Hemochromatosis [PDF]
, 2000 Agneta Åkesson, Per Stål, Marie Vahter
openalex +1 more source
Hepatitis C, Iron, and Hemochromatosis Gene Mutations [PDF]
, 2000 Dale C. Snover
openalex +1 more source
Risk profiling for cirrhosis and hepatocellular carcinoma in HFE hemochromatosis using mobilizable iron stores and alcohol consumption. [PDF]
Sci RepMitchell NDP +4 more
europepmc +1 more source
Screening for hemochromatosis: Additional considerations
, 1996 PD Phatak, RL Sham, JD Cappuccio
openalex +1 more source