Unexplained Coexisting Injury of the Liver, Pancreas, and Brain.

Aceruloplasminemia in two sisters: insights from dopaminergic imaging and a splice-site mutation.

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

Targeting ferroptosis for neuroprotection: potential therapeutic avenues in neurodegenerative and neuropsychiatric diseases.

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

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

Neurodegeneration with Brain Iron Accumulation.

Teaching NeuroImage: Clinicoradiologic Clues in Aceruloplasminemia.

[Neurodegeneration Associated with Metal Metabolism].

Renal involvement in aceruloplasminemia.

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

Aceruloplasminemia as a rare hereditary disease: four case reports in a single center.

Ceruloplasmin administration in the preclinical mouse model of aceruloplasminemia reveals a sex-related variation in biodistribution.

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

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

Electroconvulsive Therapy in Managing Intractable Psychosis in Hereditary Aceruloplasminemia-Associated Neurodegeneration: A Case Report.

Simultaneous Occurrence of Wilson's Disease, Autoimmune Hepatitis, and Hereditary Hemochromatosis: A Diagnostic Challenge.

A Revised Classification of Primary Iron Overload Syndromes.

Diagnosing aceruloplasminemia: navigating through red herrings.

Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.

New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia.

Aceruloplasminemia with Novel Mutation, with IgG4 Related Pachymeningitis - Occam's Razor or Hickam's Dictum?

Lipid dysmetabolism in ceruloplasmin-deficient mice revealed both in vivo and ex vivo by MRI, MRS and NMR analyses.

A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic Anemia.

Ceruloplasmin-Deficient Mice Show Dysregulation of Lipid Metabolism in Liver and Adipose Tissue Reduced by a Protein Replacement.

Ceruloplasmin-deficient mice show changes in PTM profiles of proteins involved in messenger RNA processing and neuronal projections and synaptic processes.

Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.

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

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.

Congenital Atypical Microcytic Anemia Accompanied by Hyposideremia and Iron Overload.

Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy.

Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene.

Cerebral Iron Deposition in Neurodegeneration.

Aceruloplasminemia exhibits typical MRI findings.

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

Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.

A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations.

Dementia as a core clinical feature of a patient with aceruloplasminemia.

Molecular Functions of Ceruloplasmin in Metabolic Disease Pathology.

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

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

Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain.

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

Production of Recombinant Human Ceruloplasmin: Improvements and Perspectives.

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

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

Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration.

Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation.

Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation.

Seizures in Hereditary Aceruloplasminemia.

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

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

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

Inherited iron overload disorders.

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

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

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

Different cortical excitability profiles in hereditary brain iron and copper accumulation.

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

Hepcidin and its therapeutic potential in neurodegenerative disorders.

ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA.

Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis.

Clinical relevance of heterozygosis for aceruloplasminemia.

Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis.

Aceruloplasminemia: Waiting for an Efficient Therapy.

Inherited Disorders of Iron Overload.

Potential Treatment of Retinal Diseases with Iron Chelators.

[Aceruloplasminemia : Diagnosis and treatment of a rare disease].

Pathophysiology and classification of iron overload diseases; update 2018.

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.

Rare anemias due to genetic iron metabolism defects.

Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia.

The interactions between iron and copper in genetic iron overload syndromes and primary copper toxicoses in Japan.

Does Ceruloplasmin Defend Against Neurodegenerative Diseases?

Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy.

Aceruloplasminemia and putaminal cavitation.

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.

Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

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

Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings.

The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia.

Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea.

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

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

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Aceruloplasminemia With Positive Ceruloplasm Gene Mutation.

Coexistence of Copper in the Iron-Rich Particles of Aceruloplasminemia Brain.

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

Iron chelation in the treatment of neurodegenerative diseases.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

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

Copper Accumulates in Hemosiderins in Livers of Patients with Iron Overload Syndromes.

Iron chelation therapy to prevent the manifestations of aceruloplasminemia.

CD1 Mouse Retina Is Shielded From Iron Overload Caused by a High Iron Diet.

Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

Iron-induced Local Complement Component 3 (C3) Up-regulation via Non-canonical Transforming Growth Factor (TGF)-β Signaling in the Retinal Pigment Epithelium.

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

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings.