Genetic Conditions > hyperferritinemia-cataract syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on hyperferritinemia-cataract syndrome.

Aguilar-Martinez P, Schved JF, Brissot P. The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Am J Gastroenterol. 2005 May;100(5):1185-94. Review. PubMed citation
Brooks DG, Manova-Todorova K, Farmer J, Lobmayr L, Wilson RB, Eagle RC Jr, St Pierre TG, Stambolian D. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1121-6. PubMed citation
Cazzola M. Hereditary hyperferritinaemia/ cataract syndrome. Best Pract Res Clin Haematol. 2002 Jun;15(2):385-98. Review. PubMed citation
Cazzola M. Role of ferritin and ferroportin genes in unexplained hyperferritinaemia. Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. Review. PubMed citation
Christiansen G, Mohney BG. Hereditary hyperferritinemia-cataract syndrome. J AAPOS. 2007 Jun;11(3):294-6. PubMed citation
Ferrante M, Geubel AP, Fevery J, Marogy G, Horsmans Y, Nevens F. Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist. Eur J Gastroenterol Hepatol. 2005 Nov;17(11):1247-53. Review. PubMed citation
Ismail AR, Lachlan KL, Mumford AD, Temple IK, Hodgkins PR. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. Eur J Ophthalmol. 2006 Jan-Feb;16(1):153-60. PubMed citation
Kato J, Niitsu Y. Recent advance in molecular iron metabolism: translational disorders of ferritin. Int J Hematol. 2002 Oct;76(3):208-12. Review. PubMed citation
Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics. 2010 Apr;4(4):250-62. Review. PubMed citation
Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C. Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):532-5. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources