Hereditary aceruloplasminemia is a rare autosomal recessive disease, firstly identified by Miyajima et al. in Japan in 1987. The disease is caused by the absence of an a2- glycoprotein, the ceruloplasmin (Cp), a copper-containing ferroxidase, mainly synthesized in hepatocytes and widely expressed, including the central nervous system, which catalyses the oxidation of ferrous to ferric iron, a change required for release of iron to plasma transferrin.
DI RAIMONDO, D., Pinto, A., Tuttolomondo, A., Fernandez, P., Camaschella, C., & Licata, G. (2008). Aceruloplasminemia: a case report. INTERNAL AND EMERGENCY MEDICINE, 3(4), 395-399.
Data di pubblicazione: | 2008 |
Titolo: | Aceruloplasminemia: a case report |
Autori: | |
Citazione: | DI RAIMONDO, D., Pinto, A., Tuttolomondo, A., Fernandez, P., Camaschella, C., & Licata, G. (2008). Aceruloplasminemia: a case report. INTERNAL AND EMERGENCY MEDICINE, 3(4), 395-399. |
Rivista: | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1007/s11739-008-0150-2 |
Abstract: | Hereditary aceruloplasminemia is a rare autosomal recessive disease, firstly identified by Miyajima et al. in Japan in 1987. The disease is caused by the absence of an a2- glycoprotein, the ceruloplasmin (Cp), a copper-containing ferroxidase, mainly synthesized in hepatocytes and widely expressed, including the central nervous system, which catalyses the oxidation of ferrous to ferric iron, a change required for release of iron to plasma transferrin. |
Appare nelle tipologie: | 1.01 Articolo in rivista |
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