Research & Literature

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.

Vroegindeweij LH, van der Beek EH, Boon AJ, et al.

Diabetic medicine : a journal of the British Diabetic Association 2015; (32(8)):993-1000 doi:10.1111/dme.12712.

Aceruloplasminaemia: a rare but important cause of iron overload.

Doyle A, Rusli F, Bhathal P

BMJ case reports 2015; (2015()).

Iron metabolism and related genetic diseases: A cleared land, keeping mysteries.

Brissot P, Loréal O

Journal of hepatology 2016; (64(2)):505-515 doi:10.1016/j.jhep.2015.11.009.

Clinical monitoring and management of complications related to chelation therapy in patients with β-thalassemia.

Saliba AN, El Rassi F, Taher AT

Expert review of hematology 2016; (9(2)):151-68 doi:10.1586/17474086.2016.1126176.

Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report).

Hayashida M, Hashioka S, Miki H, et al.

Medicine 2016; (95(19)):e3594 doi:10.1097/MD.0000000000003594.

Deferiprone-induced agranulocytosis: 20 years of clinical observations.

Tricta F, Uetrecht J, Galanello R, et al.

American journal of hematology 2016; (91(10)):1026-31 doi:10.1002/ajh.24479.

The questioning for routine monthly monitoring of proteinuria in patients with β-thalassemia on deferasirox chelation.

Bayhan T, Ünal Ş, Ünlü O, et al.

Hematology (Amsterdam, Netherlands) 2017; (22(4)):248-251 doi:10.1080/10245332.2016.1252004.

Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment.

Poli L, Alberici A, Buzzi P, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017; (38(2)):357-360 doi:10.1007/s10072-016-2756-x.

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Vroegindeweij LHP, Langendonk JG, Langeveld M, et al.

Parkinsonism & related disorders 2017; (36()):33-40 doi:10.1016/j.parkreldis.2016.12.010.

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia.

Zanardi A, Conti A, Cremonesi M, et al.

EMBO molecular medicine 2018; (10(1)):91-106 doi:10.15252/emmm.201708361.

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

Pelucchi S, Mariani R, Ravasi G, et al.

Parkinsonism & related disorders 2018; (51()):36-42 doi:10.1016/j.parkreldis.2018.02.036.

Does Ceruloplasmin Defend Against Neurodegenerative Diseases?

Wang B, Wang XP

Current neuropharmacology 2019; (17(6)):539-549 doi:10.2174/1570159X16666180508113025.

Pathophysiology and classification of iron overload diseases; update 2018.

Brissot P, Troadec MB, Loréal O, Brissot E

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019; (26(1)):80-88 doi:10.1016/j.tracli.2018.08.006.

Jadenu® Substituting Exjade® in Iron Overloaded β-Thalassemia Major (BTM) Patients: A Preliminary Report of the Effects on the Tolerability, Serum Ferritin Level, Liver Iron Concentration and Biochemical Profiles.

Yassin MA, Soliman AT, De Sanctis V, et al.

Mediterranean journal of hematology and infectious diseases 2018; (10(1)):e2018064 doi:10.4084/MJHID.2018.064.

Inherited Disorders of Iron Overload.

Pantopoulos K

Frontiers in nutrition 2018; (5()):103 doi:10.3389/fnut.2018.00103.

International sentinel site surveillance of patients with transfusional hemosiderosis treated with deferasirox in actual practice setting.

El-Beshlawy A, Inusa B, Beneitez Pastor D, et al.

Hematology (Amsterdam, Netherlands) 2019; (24(1)):238-246 doi:10.1080/16078454.2018.1558758.

Aceruloplasminemia: Waiting for an Efficient Therapy.

Piperno A, Alessio M

Frontiers in neuroscience 2018; (12()):903 doi:10.3389/fnins.2018.00903.

Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis.

Marchi G, Busti F, Lira Zidanes A, et al.

Frontiers in neuroscience 2019; (13()):325 doi:10.3389/fnins.2019.00325.

Classification and differential diagnosis of Wilson's disease.

Hermann W

Annals of translational medicine 2019; (7(Suppl 2)):S63 doi:10.21037/atm.2019.02.07.

ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA.

Ronquillo CC, Sauer L, Morgan D, et al.

Retina (Philadelphia, Pa.) 2019; (39(9)):1824-1828 doi:10.1097/IAE.0000000000002628.

Ceruloplasmin deficiency does not induce macrophagic iron overload: lessons from a new rat model of hereditary aceruloplasminemia.

Kenawi M, Rouger E, Island ML, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2019; (33(12)):13492-13502 doi:10.1096/fj.201901106R.

Intracranial iron distribution and quantification in aceruloplasminemia: A case study.

Zhou L, Chen Y, Li Y, et al.

Magnetic resonance imaging 2020; (70()):29-35 doi:10.1016/j.mri.2020.02.016.

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

Vila Cuenca M, Marchi G, Barqué A, et al.

International journal of molecular sciences 2020; (21(7)) doi:10.3390/ijms21072374.

Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature.

Miyake Z, Nakamagoe K, Yoshida K, et al.

Internal medicine (Tokyo, Japan) 2020; (59(14)):1755-1761 doi:10.2169/internalmedicine.4178-19.

Inherited iron overload disorders.

Piperno A, Pelucchi S, Mariani R

Translational gastroenterology and hepatology 2020; (5()):25 doi:10.21037/tgh.2019.11.15.

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.

Ondrejkovičová M, Dražilová S, Drakulová M, et al.

BMC gastroenterology 2020; (20(1)):95 doi:10.1186/s12876-020-01237-8.

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.

Vroegindeweij LHP, Boon AJW, Wilson JHP, Langendonk JG

Orphanet journal of rare diseases 2020; (15(1)):105 doi:10.1186/s13023-020-01385-w.

[Aceruloplasminemia, a rare condition not to be overlooked].

Lobbes H, Reynaud Q, Mainbourg S, et al.

La Revue de medecine interne 2020; (41(11)):769-775 doi:10.1016/j.revmed.2020.06.002.

ASYMPTOMATIC OCULAR MANIFESTATIONS OF ACERULOPLASMINEMIA IN TWO ADULT WHITE SIBLINGS: A MULTIMODAL IMAGING APPROACH.

Furashova O, Mielke S, Lindner U

Retinal cases & brief reports 2023; (17(3)):273-278 doi:10.1097/ICB.0000000000001166.

A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.

Xu WQ, Ni W, Wang RM, et al.

Metabolic brain disease 2021; (36(8)):2273-2281 doi:10.1007/s11011-021-00799-0.

Production of Recombinant Human Ceruloplasmin: Improvements and Perspectives.

Bonaccorsi di Patti MC, Cutone A, Nemčovič M, et al.

International journal of molecular sciences 2021; (22(15)) doi:10.3390/ijms22158228.

Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.

Salsone M, Arabia G, Annesi G, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(3)):1791-1797 doi:10.1007/s10072-021-05613-4.

Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese woman: a case report.

Xiao Y, Zhu C, Jiang F, et al.

Annals of palliative medicine 2022; (11(7)):2516-2522 doi:10.21037/apm-21-1086.

MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study.

Vroegindeweij LHP, Wielopolski PA, Boon AJW, et al.

NeuroImage 2021; (245()):118752 doi:10.1016/j.neuroimage.2021.118752.

A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report.

Lobbes H, Reynaud Q, Mainbourg S, et al.

Frontiers in neuroscience 2022; (16()):906360 doi:10.3389/fnins.2022.906360.

Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.

Touarsa F, Ali Mohamed D, Onka B, et al.

BJR case reports 2022; (8(5)):20220035 doi:10.1259/bjrcr.20220035.

Compliance and clinical benefit of deferasirox granule and dispersible tablet formulation in pediatric patients with transfusional iron overload: in a randomized, open-label, multicenter, phase II study.

Taher AT, Wali Y, Cruz MC, et al.

Haematologica 2024; (109(5)):1413-1425 doi:10.3324/haematol.2023.283133.

Diagnosing aceruloplasminemia: navigating through red herrings.

Kharel Z, Kharel H, Phatak PD

Annals of hematology 2024; (103(6)):2173-2176 doi:10.1007/s00277-024-05743-7.

Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia.

Maarad N, Rahmani M, Taho A, et al.

Cureus 2024; (16(8)):e67331 doi:10.7759/cureus.67331.

Reference Values of Ceruloplasmin across the Adult Age Range in a Large Italian Healthy Population.

Pelucchi S, Risca G, Lanzafame C, et al.

The journal of applied laboratory medicine 2024; (9(6)):1053-1063 doi:10.1093/jalm/jfae098.

Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.

Ziliotto N, Lencioni S, Cirinciani M, et al.

EBioMedicine 2025; (113()):105625 doi:10.1016/j.ebiom.2025.105625.

A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report.

Giannakis A, Konstantinos T, Argyropoulou M, et al.

Reports (MDPI) 2024; (8(1)) doi:10.3390/reports8010004.

MRI R2* and quantitative susceptibility mapping in brain tissue with extreme iron overload.

Birkl C, Panzer M, Kames C, et al.

European radiology experimental 2025; (9(1)):80 doi:10.1186/s41747-025-00622-w.

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Mertiri L, Lequin M, Rossi A, et al.

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2025; (35(6)):e70112 doi:10.1111/jon.70112.

Machine learning in the prediction of liver iron concentration and iron chelation therapy adjustment.

Loh JB, Kim S, Ward R, et al.

Hematology (Amsterdam, Netherlands) 2026; (31(1)):2647314 doi:10.1080/16078454.2026.2647314.

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.

Antos A, Gromadzka G, Bembenek JP, Litwin T

Diagnostics (Basel, Switzerland) 2026; (16(9)) doi:10.3390/diagnostics16091342.

Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement.

Jin P, Dai G, Hong J, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments.

Schneider SA, Garg D, Iankova V, Klopstock T

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70736.

Aceruloplasminemia Presenting With Prominent Psychiatric Symptoms and Neurodegeneration: A Case Report.

Almarzooqi A, Almarzooqi A, Juma K, Kamalboor H

Clinical case reports 2026; (14(8)):e73366 doi:10.1002/ccr3.73366.