Associated Papers
Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.
Abadía Molina C et al.
Medicina Clinica, 2024
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
Faria R et al.
Blood Cells, Molecules & Diseases, 2016
Blepharospasm in a multiplex African-American pedigree.
Xiao J et al.
Journal of the Neurological Sciences, 2016
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R et al.
British Journal of Haematology, 2014
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J et al.
European Journal of Pediatrics, 2010
Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.
Castiglioni E et al.
Parkinson's Disease, 2010
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
Barton JC et al.
American Journal of Hematology, 2009
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