Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.
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DOI: 10.1080/08880018.2022.2140235
Abstract: Aceruloplasminemia inherited autosomal recessively in the ceruloplasmin gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. Ceruloplasmin gene encodes ceruloplasmin protein, which has ferroxidase activity… read more here.
Keywords: microcytic anemia; variant; aceruloplasminemia presenting; boy ... See more keywords