Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families-Reference-Cited by-同舟云学术

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Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families

Published:2011-08 Issue:4 Volume:15 Page:356-361
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Shekunov Julia,de Groen Piet C.,Lindor Noralane M.,Klee George G.,Aleff Ross A.,Wieben Eric D.,Mohney Brian G.

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract;Girelli;Br J Haematol,1995

2. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract;Beaumont;Nat Genet,1995

3. Hereditary hyperferritinemia cataract syndrome: Ocular, genetic, and biochemical findings;Ismail;Eur J Ophthalmol,2006

4. The role of iron regulatory proteins in mammalian iron homeostasis and disease;Rouault;Nat Chem Biol,2006

5. Translational pathophysiology: A novel molecular mechanism of human disease;Cazzola;Blood,2000

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1. Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-02

2. Assessing Nutritional Anemia Among University Students in Jazan, Saudi Arabia: A Public Health Perspective;Journal of Blood Medicine;2024-02

3. Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families;International Journal of Molecular Sciences;2023-07-25

4. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review;Hematology;2021-01-01

5. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee;Case Reports in Hematology;2020-05-26

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