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Page 1
[Hyperferritinemia cataract syndrome].
Kessler LJ, Auffarth GU, Khoramnia R. Kessler LJ, et al. Ophthalmologie. 2023 Mar;120(3):237. doi: 10.1007/s00347-022-01787-0. Epub 2022 Dec 22. Ophthalmologie. 2023. PMID: 36547669 German. No abstract available.
Brazilian family with hyperferritinemia-cataract syndrome: case report.
Alvarenga AM, Silva NKD, Cançado RD, Carvalho LEMR, Santos PCJL. Alvarenga AM, et al. Einstein (Sao Paulo). 2022 Oct 24;20:eRC0076. doi: 10.31744/einstein_journal/2022RC0076. eCollection 2022. Einstein (Sao Paulo). 2022. PMID: 36287435 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagno …
Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral catarac …
Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation.
Eris T, Yanik AM, Demirtas D, Yilmaz AF, Toptas T. Eris T, et al. Cureus. 2023 Mar 16;15(3):e36253. doi: 10.7759/cureus.36253. eCollection 2023 Mar. Cureus. 2023. PMID: 37069863 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cat …
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferr …
Hereditary hyperferritinemia-cataract syndrome.
Christiansen G, Mohney BG. Christiansen G, et al. J AAPOS. 2007 Jun;11(3):294-6. doi: 10.1016/j.jaapos.2007.01.126. J AAPOS. 2007. PMID: 17572344
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a recently recognized syndrome characterized by dominantly inherited, early-onset cataracts and elevated serum ferritin. ...
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a recently recognized syndrome characterized by dominantly inh …
Hyperferritinemia and inflammation.
Kernan KF, Carcillo JA. Kernan KF, et al. Int Immunol. 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. Int Immunol. 2017. PMID: 28541437 Free PMC article. Review.
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.
Cosentino I, Zeri F, Swann PG, Majore S, Radio FC, Palumbo P, Grammatico P, Petitti V. Cosentino I, et al. Ophthalmic Genet. 2016 Sep;37(3):318-22. doi: 10.3109/13816810.2015.1059460. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849797
BACKGROUND: Hyperferritinemia-cataract syndrome (HCS) is a rare Mendelian condition characterized by bilateral cataract and high levels of serum ferritin in the absence of iron overload. ...
BACKGROUND: Hyperferritinemia-cataract syndrome (HCS) is a rare Mendelian condition characterized by bilateral cataract …
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
Moravikova J, Honzik T, Jadvidzakova E, Zdrahalova K, Kremlikova Pourova R, Korbasova M, Liskova P, Dudakova L. Moravikova J, et al. J AAPOS. 2020 Dec;24(6):352.e1-352.e5. doi: 10.1016/j.jaapos.2020.07.014. Epub 2020 Nov 19. J AAPOS. 2020. PMID: 33221470
BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. ...
BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with hi …
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M. Celma Nos F, et al. Int J Mol Sci. 2021 May 21;22(11):5451. doi: 10.3390/ijms22115451. Int J Mol Sci. 2021. PMID: 34064225 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. ...To illustrate this disease, we report two new families affected wi …
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, co …
The hereditary hyperferritinemia-cataract syndrome in 2 italian families.
Perruccio K, Arcioni F, Cerri C, La Starza R, Romanelli D, Capolsini I, Caniglia M. Perruccio K, et al. Case Rep Pediatr. 2013;2013:806034. doi: 10.1155/2013/806034. Epub 2013 Dec 4. Case Rep Pediatr. 2013. PMID: 24368960 Free PMC article.
C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS). The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH), which needs treatment to prevent organ damages …
C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract …
128 results