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
Hereditary hyperferritinaemia-cataract syndrome (HHCS) - an underestimated condition: ferritin light chain variant spectrum in German families.
Volkmann M et al.
Clinical Chemistry and Laboratory Medicine, 2019
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
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.
Millonig G et al.
Human Genomics, 2010
Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.
Ferrante M et al.
European Journal of Gastroenterology & Hepatology, 2005
Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.
Cremonesi L et al.
British Journal of Haematology, 2003
Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin.
Campagnoli MF et al.
European Journal of Pediatrics, 2002
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
Girelli D et al.
British Journal of Haematology, 2001
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