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

Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.

Clinical genetics - 1 Feb 2002

Hegele R A, Miskie B A

Abstract excerpt

We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis - literally 'thorny' erythrocytes that result from abnormal...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoproteins B
Share to Chorea
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythrocytes

Share to Erythrocytes, Abnormal

Share to Heterozygote

Share to Homozygote

Share to Hypobetalipoproteinemias

Source

Identifiers

PMID: 11940084
DOI: 10.1034/j.1399-0004.2002.610204.x

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.PMID 11940084Read ↗

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.Semantic proximity Read ↗

[Acanthocytes and hypocholesterolemia].Semantic proximity Read ↗

Intravenous fat emulsion as treatment for ivermectin toxicosis in three dogs homozygous for the ABCB1-1Δ gene mutation.Semantic proximity Read ↗

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Semantic proximity Read ↗

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.Semantic proximity Read ↗

Phosphatidylethanolamines are the main lipid class altered in red blood cells from patients with VPS13A disease/chorea-acanthocytosisSemantic proximity Read ↗

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.Semantic proximity Read ↗

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B geneSemantic proximity Read ↗

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