Browsing by Subject "Hereditary hyperferritinemia cataract syndrome"

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Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases

Celma Nos, Ferran; Hernández, Gonzalo; León Llorente, Consuelo; Hernandez-Rodriguez, Ines; Navarro-Almenzar, Begoña; Fuster, José Javier; Bermúdez Cortés, Mar; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez-Fernandez, Mayka (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

Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Benet Campos, Carmen; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sanchez-Fernandez, Mayka (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 ...