Disease: Aceruloplasminemia
- A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
- A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report
- A Revised Classification of Primary Iron Overload Syndromes
- A Turkish Case of Aceruloplasminemia Detected to Have A Novel Pathogenic Variant Presented With High Ferritin Level And Microcytic Anemia
- A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic Anemia
- Aceruloplasminemia exhibits typical MRI findings
- Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant
- Aceruloplasminemia with Novel Mutation, with IgG4 Related Pachymeningitis - Occam's Razor or Hickam's Dictum?
- Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation
- 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
- Cerebral Iron Deposition in Neurodegeneration
- Ceruloplasmin-deficient mice show changes in PTM profiles of proteins involved in messenger RNA processing and neuronal projections and synaptic processes
- Ceruloplasmin-Deficient Mice Show Dysregulation of Lipid Metabolism in Liver and Adipose Tissue Reduced by a Protein Replacement
- Congenital Atypical Microcytic Anemia Accompanied by Hyposideremia and Iron Overload
- Dementia as a core clinical feature of a patient with aceruloplasminemia
- Diagnosing aceruloplasminemia: navigating through red herrings
- Electroconvulsive Therapy in Managing Intractable Psychosis in Hereditary Aceruloplasminemia-Associated Neurodegeneration: A Case Report
- 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
- Lipid dysmetabolism in ceruloplasmin-deficient mice revealed both in vivo and ex vivo by MRI, MRS and NMR analyses
- Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy
- Neuroacanthocytosis
- Neuroacanthocytosis
- Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia
- Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders
- New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia
- Simultaneous Occurrence of Wilson's Disease, Autoimmune Hepatitis, and Hereditary Hemochromatosis: A Diagnostic Challenge