Associated Papers
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia.
Maarad N et al.
Cureus, 2024
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M et al.
International Journal of Molecular Sciences, 2020
Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis.
Marchi G et al.
Frontiers in Neuroscience, 2019
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.
Pelucchi S et al.
Parkinsonism & Related Disorders, 2018
Role of external loops of human ceruloplasmin in copper loading by ATP7B and Ccc2p.
Maio N et al.
The Journal of Biological Chemistry, 2010
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