ArticleInternational journal of molecular sciences2020
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Open access · goldAbstract read
In one paragraph
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.Metabolic brain disease · 2021Pooled it
- Iron dyshomeostasis and its neurobiological mechanisms in psychiatric disorders.Molecular psychiatry · 2026Review
- Ferroptosis-driven metabolic reprogramming in macrophages: Reshaping glucose utilization landscapes.Chinese medical journal · 2026Review
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.EBioMedicine · 2025Article
- Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.Movement disorders clinical practice · 2024Article
- Article
- A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) ofHeliyon · 2024Article
- Lipid dysmetabolism in ceruloplasmin-deficient mice revealed both in vivo and ex vivo by MRI, MRS and NMR analyses.FEBS open bio · 2024Article
- A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic AnemiaTurkish journal of haematology : official journal of Turkish Society of Haematology · 2023Article
- Ceruloplasmin-Deficient Mice Show Dysregulation of Lipid Metabolism in Liver and Adipose Tissue Reduced by a Protein Replacement.International journal of molecular sciences · 2023Article
- Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.BJR case reports · 2022Article
- New Cases of Hypochromic Microcytic Anemia Due to Mutations in theInternational journal of molecular sciences · 2022Article
- Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Congenital Atypical Microcytic Anemia Accompanied by Hyposideremia and Iron Overload.Mediterranean journal of hematology and infectious diseases · 2022Article
- A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report.Frontiers in neuroscience · 2022Article
- New Mutations inGenes · 2021Article
- Review
- Movement Disorders and Liver Disease.Movement disorders clinical practice · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 14 institutions in 8 countries.
Marc Vila CuencaIron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
Giacomo MarchiEuroBloodNet Referral Center for Iron Disorders and Gruppo Interdisciplinare Malattie del Ferro, Internal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.ORCID 0000-0002-4628-4825
Anna BarquéIron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
Clara Esteban-JuradoIron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
Alessandro MarchettoDepartment of Biotechnology, University of Verona, 37134 Verona, Italy.ORCID 0000-0001-9857-4376
Alejandro GiorgettiDepartment of Biotechnology, University of Verona, 37134 Verona, Italy.
Viorica ChelbanNational Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Henry HouldenNational Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Nicholas W WoodNational Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Chiara PiubelliCentre for Tropical Diseases, Ospedale Sacro Cuore - Don Calabria, 37024 Negrar (VR), Italy.
Marina Dorigatti BorgesHematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.
Dulcinéia Martins de AlbuquerqueHematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.
Kleber Yotsumoto FertrinHematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.ORCID 0000-0003-2637-3297
Ester Jové-BuxedaInternal Medicine Department, Parc Tauli Hospital Universitari, Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.
Jordi Sanchez-DelgadoHepatology Unit, Digestive Diseases Department, Parc Tauli Hospital Universitari. Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.ORCID 0000-0002-5217-6492
Neus Baena-DíezGenetic Department, Parc Tauli Hospital Universitari, Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.
Birute BurnyteDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
Algirdas UtkusDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
Fabiana BustiEuroBloodNet Referral Center for Iron Disorders and Gruppo Interdisciplinare Malattie del Ferro, Internal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.ORCID 0000-0003-4642-0230
Gintaras KaubrysClinic of Neurology and Neurosurgery, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.ORCID 0000-0003-4998-8403
Eda SukuDepartment of Biotechnology, University of Verona, 37134 Verona, Italy.
Kamil KowalczykDepartment of Adult Neurology, Medical University of Gdańsk, 80-210 Gdańsk, Poland.ORCID 0000-0003-0990-2089
Bartosz KaraszewskiDepartment of Adult Neurology, Medical University of Gdańsk, 80-210 Gdańsk, Poland.ORCID 0000-0003-2726-0016
John B PorterJoint Red Cell Unit, Haematology Department, University College London NHS Foundation Trust, Cancer Services, 250 Euston Road, London NW1 2PG, UK.
Sally PollardConsultant Paediatrician, Bradford Royal Infirmary, Duckworthlane, Bradford BD9 6RJ, UK.
Perla EleftheriouJoint Red Cell Unit, Haematology Department, University College London NHS Foundation Trust, Cancer Services, 250 Euston Road, London NW1 2PG, UK.
Patricia BignellOxford Regional Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford OX3 7LE, UK.
Domenico GirelliEuroBloodNet Referral Center for Iron Disorders and Gruppo Interdisciplinare Malattie del Ferro, Internal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.ORCID 0000-0001-9684-1899
Mayka SanchezIron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya (UIC); Sant Cugat del Valles, 08017 Barcelona, Spain.ORCID 0000-0002-6499-5989
Azienda Ospedaliera Universitaria Integrata Verona · ITJosep Carreras Leukaemia Research Institute · ESUniversidade Estadual de Campinas (UNICAMP) · BRUniversitat Autònoma de Barcelona · ESUniversity of Verona · ITVilnius University · LTGdańsk Medical University · PLNational Hospital for Neurology and Neurosurgery · GBUniversity College London Hospitals NHS Foundation Trust · GBBradford Royal Infirmary · GBChurchill Hospital · GBInstitute of International Relations of Moldova · MDOspedale Sacro Cuore Don Calabria · ITUniversitat Internacional de Catalunya · ES
Funding
Medical Research Council G0802760Medical Research Council G1001253Wellcome Trust
Abstract
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (
Indexed as
AdultAgedCeruloplasminEarly DiagnosisFemaleHumansIron Metabolism DisordersLiverMaleMiddle AgedModels, MolecularMutationNeurodegenerative DiseasesCeruloplasminaceruloplasminemiaanemiaceruloplasminferritiniron metabolismneurodegenerative disease
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.