Aceruloplasminemia: a case report

Antonio Pinto, Antonino Tuttolomondo, Giuseppe Licata, Domenico Di Raimondo, Clara Camaschella, Domenico Di Raimondo, Paola Fernandez

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Hereditary aceruloplasminemia is a rare autosomal recessivedisease, firstly identified by Miyajima et al. in Japan in1987. The disease is caused by the absence of an a2-glycoprotein, the ceruloplasmin (Cp), a copper-containingferroxidase, mainly synthesized in hepatocytes and widelyexpressed, including the central nervous system, whichcatalyses the oxidation of ferrous to ferric iron, a changerequired for release of iron to plasma transferrin.
Original languageEnglish
Pages (from-to)395-399
Number of pages5
JournalInternal and Emergency Medicine
Volume3
Publication statusPublished - 2008

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Emergency Medicine

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