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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Vydáno v:Front Neurosci
Hlavní autoři: Marchi, Giacomo, Busti, Fabiana, Lira Zidanes, Acaynne, Castagna, Annalisa, Girelli, Domenico
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Neuroscience
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460567/
https://ncbi.nlm.nih.gov/pubmed/31024241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2019.00325
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