Associated Papers
Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.
Sipilä JOT et al.
Movement Disorders Clinical Practice, 2025
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
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.
Vroegindeweij LH et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2015
Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin.
Kono S et al.
Biochimica Et Biophysica Acta, 2010
Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia.
Muroi R et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series.
Brugger F et al.
Movement Disorders Clinical Practice, 0
Select a paper to view details