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Review Articles from PubMed
To detect features that might lead to the early diagnosis and treatment of aceruloplasminemia, as initiation of treatment before the onset of neurological symptoms is likely to prevent neurological deterioration.
Aceruloplasminemia is an inherited neurodegenerative disorder involving "neurodegeneration with brain iron accumulation," which is caused by genetic defects in the ceruloplasmin gene. Ceruloplasmin is a multicopper oxidase with ferroxidase activity that oxidizes ferrous iron following ...
Ceruloplasmin contains 95% of the copper in human serum and plays an important role in iron efflux from mammalian cells, including brain cells, due to the activity of ferroxidase, which oxidizes ferrous iron following its transfer to the cell surface via the iron transporter, ferroportin, ...
Editorials from PubMed
Research Articles from PubMed
To describe the clinical, histological, electrophysiologic, and multimodal imaging findings in a 76-year-old patient with aceruloplasminemia with low genetic risk of age-related macular degeneration (AMD).
Aceruloplasminemia is a rare form of brain iron overload of autosomal recessive inheritance that results from mutations in the CP gene, encoding the iron oxidase ceruloplasmin. Homozygous aceruloplasminemia causes progressive neurodegenerative disease, anemia, and diabetes, and is ...