Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

Parkinsonism & related disorders - 1 Jun 2018

Pelucchi Sara, Mariani Raffaella, Ravasi Giulia, Pelloni Irene, Marano Massimo, Tremolizzo Lucio, Alessio Massimo, Piperno Alberto

Abstract excerpt

INTRODUCTION: Aceruloplasminemia is an ultra-rare hereditary disorder characterized by iron-restricted microcytic anemia and tissue iron overload associated with diabetes, retinal and progressive neurological degeneration. We describe genotypes and phenotypes at diagnosis, and disease evolution of seven Italian patients. METHODS: Anagraphical, biochemical, genetic, clinical and instrumental data were collected at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ceruloplasmin
Share to Disease Progression

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Genotype

Share to Iron Metabolism Disorders

Share to Neurodegenerative Diseases

Share to Phenotype

Source

Identifiers

PMID: 29503155
DOI: 10.1016/j.parkreldis.2018.02.036

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.PMID 29503155Read ↗

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

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

Aceruloplasminemia: an update.Semantic proximity Read ↗

A Novel Ceruloplasmin Mutation Identified in a Chinese Patient and Clinical Spectrum of Aceruloplasminemia PatientsSemantic proximity Read ↗

Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms.Semantic proximity Read ↗

The copper-iron connection: hereditary aceruloplasminemia.Semantic proximity Read ↗

[Aceruloplasminemia].Semantic proximity Read ↗

Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.Semantic proximity Read ↗

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.Semantic proximity Read ↗

Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population dataSemantic proximity Read ↗

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

Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.