Associated Papers
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Yang Y et al.
Hematology (amsterdam, Netherlands), 2021
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
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
Muñoz-Muñoz J et al.
Clinical Genetics, 2013
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
The hereditary hyperferritinemia-cataract syndrome in 2 italian families.
Perruccio K et al.
Case Reports in Pediatrics, 2013
Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series.
Kröger A et al.
Journal of Medical Case Reports, 2011
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
Ferrari F et al.
Human Mutation, 2006
Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.
Ferrante M et al.
European Journal of Gastroenterology & Hepatology, 2005
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