Browsing Ciències Bàsiques by Author "Bermúdez Cortés, Mar"

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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; Ferrer-Cortès, Xènia; 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 ...