Associated Papers
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
40043514 (PubMed )
Supplement: mmc6.xlsx › 244_Rare_LoF_SM_variants_
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
32235485 (PubMed )
Supplement: ijms-21-02374-s001.pdf
Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea.
Kim HK et al.
Clinical Neuroradiology, 2017
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