Visualitzant per matèria "Serum ferritin"
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Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
(International Journal of Molecular Sciences, 2021)Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder ... -
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
(Orphanet Journal of Rare Diseases, 2013)Background: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease ...