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

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.

Internal medicine (Tokyo, Japan) - 15 Jan 2023

Tada Hayato, Okada Hirofumi, Nomura Akihiro, Takamura Masayuki, Kawashiri Masa-Aki

Abstract excerpt

We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our hospital. Their LDL cholesterol levels decreased significantly after weaning. Panel sequencing revealed a pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol

Share to Cholesterol, LDL

Share to Hypercholesterolemia

Share to Lipoproteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35705271
DOI: 10.2169/internalmedicine.0050-22
PMCID: PMC9908398

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.PMID 35705271Read ↗

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.Semantic proximity Read ↗

Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia PhenotypeSemantic proximity Read ↗

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.Semantic proximity Read ↗

Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.Semantic proximity Read ↗

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.Semantic proximity Read ↗

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.Semantic proximity Read ↗

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.Semantic proximity Read ↗

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.Semantic proximity Read ↗

Genetic disorders associated with ATP binding cassette cholesterol transporters.Semantic proximity Read ↗

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.Semantic proximity Read ↗

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous MutationSemantic proximity Read ↗

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