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

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

Atherosclerosis - 1 Jul 2017

Buonuomo Paola Sabrina, Iughetti Lorenzo, Pisciotta Livia, Rabacchi Claudio, Papadia Francesco, Bruzzi Patrizia, Tummolo Albina, Bartuli Andrea, Cortese Claudio, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND AND AIMS: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol...

Read the complete abstract on PubMed

Topics

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

Share to Anticholesteremic Agents
Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

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

Share to ATP Binding Cassette Transporter, Subfamily G, Member 8

Share to Diet, Fat-Restricted

Share to Ezetimibe

Share to Intestinal Diseases

Share to Lipid Metabolism, Inborn Errors

Share to Phytosterols

Source

Identifiers

PMID: 28521186
DOI: 10.1016/j.atherosclerosis.2017.05.002

Genes

ABCG5
ABCG8

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

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.PMID 28521186Read ↗

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

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Semantic proximity Read ↗

A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up.Semantic proximity Read ↗

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

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

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

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.Semantic proximity Read ↗

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemiaSemantic proximity Read ↗

Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children’s HospitalSemantic 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 ↗

Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.Semantic proximity Read ↗

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.Semantic proximity Read ↗

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