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Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (CP), which in turn lead to absence or strong reduction of CP activity. CP is a ferroxidase that plays a key role in iron export from vari...

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Detalles Bibliográficos
Autores principales: Marchi, Giacomo, Busti, Fabiana, Lira Zidanes, Acaynne, Castagna, Annalisa, Girelli, Domenico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460567/
https://www.ncbi.nlm.nih.gov/pubmed/31024241
http://dx.doi.org/10.3389/fnins.2019.00325