Article

A Novel Ceruloplasmin Mutation Identified in a Chinese Patient and Clinical Spectrum of Aceruloplasminemia Patients

2021-04-20

Abstract excerpt

<title>Abstract</title> <p><bold>Background and Purpose: </bold>Aceruloplasminemia (ACP) is a rare disorder of iron overload resulting from <italic>ceruloplasmin </italic>(<italic>CP</italic>) variants. Because of its rarity and heterogeneity, the diagnosis of ACP is often missed or misdiagnosed. Here, we aim to present a clinical spectrum of ACP and raise more attention to the early diagnosis. <bold>Methods: </b...

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Literature Corpus work: bb57ab4c-8d4c-5c22-af5b-4654b32d5923
DOI: 10.21203/rs.3.rs-398274/v1

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