Article
Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese woman: a case report.
Annals of palliative medicine - 1 Jul 2022
Xiao Yuanyuan, Zhu Chaoyu, Jiang Fusong, Gao Qingge, Lu Huijuan, Wang Chen, Wei Li
Abstract excerpt
Hereditary aceruloplasminemia (ACP) is a rare adult-onset autosomal recessive disease characterized by a ceruloplasmin (CP) gene mutation and defective or absent CP function. In the present study, we report a case of ACP in a 34-year-old Chinese woman with diabetes, fatigue, anxiety, and progressive membrane loss with low hemoglobin associated with microcytosis. The fasting glucose level was 5.6-7.96 mmol/L....
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