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Autor:
Hervé Lobbes, Quitterie Reynaud, Sabine Mainbourg, Claire Savy-Stortz, Martine Ropert, Edouard Bardou-Jacquet, Stéphane Durupt
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes melli
Externí odkaz:
https://doaj.org/article/a9bf0aa8908248cd9ce2285c83a381fc
