Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder
G Millonig, MU Muckenthaler, S Mueller - Human genomics, 2010 - Springer
The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an
autosomal dominant cataract and high levels of serum ferritin without iron overload. The …
autosomal dominant cataract and high levels of serum ferritin without iron overload. The …
[PDF][PDF] Metabolizm żelaza z zagadnieniami matczyno--płodowego krążenia żelaza* Iron metabolism and maternal-fetal iron circulation
A Słomka, E Żekanowska, K Piotrowska… - Postepy Hig Med …, 2012 - researchgate.net
Żelazo jest mikroelementem niezbędnym do prawidłowego funkcjonowania większości
organizmów. Pierwiastek ten wykorzystywany jest w transporcie tlenu, syntezie mieliny i …
organizmów. Pierwiastek ten wykorzystywany jest w transporcie tlenu, syntezie mieliny i …
Gene conversion mutation in crystallin, β-B2 (CRYBB2) in a chilean family with autosomal dominant Cataract
JB Bateman, FRB von-Bischhoffshaunsen, L Richter… - Ophthalmology, 2007 - Elsevier
PURPOSE: To map and identify the mutated gene for autosomal dominant cataract (ADC) in
a large Chilean family (ADC53). DESIGN: Experimental study. PARTICIPANTS: Large …
a large Chilean family (ADC53). DESIGN: Experimental study. PARTICIPANTS: Large …
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review
Y Yang, T Lin, P Kuang, X Chen - Hematology, 2021 - Taylor & Francis
Objectives: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal
dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts …
dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts …
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site
KP Burdon, S Sharma, CS Chen, DP Dimasi… - Human …, 2007 - Wiley Online Library
Hereditary hyperferritinemia cataract syndrome (HHCS) is characterized by distinctive
cataracts and high serum ferritin in the absence of iron overload. It is caused by mutations in …
cataracts and high serum ferritin in the absence of iron overload. It is caused by mutations in …
A novel double nucleotide variant in the ferritin‐L iron‐responsive element in a Finnish patient with hereditary hyperferritinaemia‐cataract syndrome
RM Mattila, A Sainio, M Järveläinen… - Acta …, 2018 - Wiley Online Library
Purpose To present a novel Finnish double nucleotide variant in the iron‐responsive
element (IRE) of the ferritin L‐chain gene (FTL) leading to hyperferritinaemia‐cataract …
element (IRE) of the ferritin L‐chain gene (FTL) leading to hyperferritinaemia‐cataract …
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.
FGA Meneses, B Schnabel, I Silva… - Clinical …, 2011 - search.ebscohost.com
The article discusses the biological concepts on the identification of mutations associated
with hereditary hyperferritinemia cataract syndrome (HHCS) and hemochromatosis in a …
with hereditary hyperferritinemia cataract syndrome (HHCS) and hemochromatosis in a …
[HTML][HTML] A rare case report of hereditary hyperferritinemia cataract syndrome
A Neofytou, A Damianaki, L Kossiva - Pediatric Hematology Oncology …, 2024 - Elsevier
Background Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare genetic
disease caused by a mutation in the ferritin light chain gene (FTL gene). It is characterized …
disease caused by a mutation in the ferritin light chain gene (FTL gene). It is characterized …
High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene
E Castiglioni, N Soriani, D Girelli… - Clinical chemistry and …, 2010 - degruyter.com
Background: Among the causes of hyperferritinemia, hereditary hyperferritinemia cataract
syndrome (HHCS) is an autosomal dominant disease characterized by distinctive cataracts …
syndrome (HHCS) is an autosomal dominant disease characterized by distinctive cataracts …
Brazilian family with hyperferritinemia-cataract syndrome: case report
AM Alvarenga, NK Silva, RD Cançado… - einstein (São …, 2022 - SciELO Brasil
Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease
caused by a genetic mutation in the iron responsive element in the 5'untranslated region of …
caused by a genetic mutation in the iron responsive element in the 5'untranslated region of …