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Article

Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

Suzuki Yasuhiro, Yoshida Kosuke, Aburakawa Yoko, Kuroda Kenji, Kimura Takashi, Terada Tatsuhiro, Kono Satoshi, Miyajima Hiroaki, Yahara Osamu

Abstract excerpt

A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed a novel homozygous...

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PMID: 23812204
DOI: 10.2169/internalmedicine.52.0102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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