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- W2314055093 abstract "Aceruloplasminemia is a rare autosomal recessive disease that affects the iron metabolism of the body. When there is a lack of ceruloplasmin ferroxidase activity, iron accumulates, especially in the brain, pancreas, liver, and retina. The first symptom is generally a persistent hypochromic microcytic anemia with a mild high-serum ferritin level. The affected patients are usually recognized at later ages, when the neurological symptoms appear. The neurological outcome has an adverse effect on the prognosis, which may result in fatality. Therefore, early diagnosis and intervention may prevent a devastating neurological damage. Here, we report a case of aceruloplasminemia in a teenage girl with hypochromic microcytic anemia." @default.
- W2314055093 created "2016-06-24" @default.
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- W2314055093 date "2014-10-01" @default.
- W2314055093 modified "2023-10-18" @default.
- W2314055093 title "Aceruloplasminemia in a Turkish Adolescent With a Novel Mutation of Ceruloplasmin Gene" @default.
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- W2314055093 doi "https://doi.org/10.1097/mph.0000000000000053" @default.
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