Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload

Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS wh...

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Bibliografiske detaljer
Udgivet i:Hepatology
Main Authors: Yin, Dan, Kulhalli, Vasu, Walker, Ann P
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2014
Fag:
Clinical Observations in Hepatology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4296220/
https://ncbi.nlm.nih.gov/pubmed/24003015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.26681
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