Associated Papers
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F et al.
International Journal of Molecular Sciences, 2021
34064225 (PubMed )
Supplement: ijms-22-05451-s001.zip › ijms-1219121-supplementary.pdf
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
30678075 (PubMed )
Supplement: pharmaceuticals-12-00017-s001.pdf
A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.
Mattila RM et al.
Acta Ophthalmologica, 2018
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
Luscieti S et al.
Orphanet Journal of Rare Diseases, 2013
23421845 (PubMed )
Supplement: 1750-1172-8-30-S1.pdf
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.
Meneses FG et al.
Clinical Genetics, 2011
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].
García Erce JA et al.
Medicina Clinica, 2006
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