Hereditary Hyperferritinemia: A Diagnostic Challenge
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https://doi.org/10.20344/amp.22802Keywords:
Hematology, Hospitals, Tertiary, Referral and Consultation, Portugal, Primary Health CareAbstract
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European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022;77:479-502. DOI: https://doi.org/10.1016/j.jhep.2022.03.033
Craig J, Clark J, McLeod J, Kirkland M, Grant G, Elder J, et al. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. Arch Ophthalmol. 2003;121:1753-61. DOI: https://doi.org/10.1001/archopht.121.12.1753
Milloning G, Muckenthaler M, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics. 2010;4:250-62. DOI: https://doi.org/10.1186/1479-7364-4-4-250
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