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Article

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.

Journal of clinical lipidology - 1 Jan 2000

Tada Hayato, Nomura Akihiro, Yamagishi Masakazu, Kawashiri Masa-Aki

Abstract excerpt

We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. A 1-year-old girl was admitted to Kanazawa University Hospital due to her hyper low-density lipoprotein (LDL)-cholesterolemia (453 mg/dL) as well as intertriginous xanthomas associated with breastfeeding. Initially, she was suspected as...

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

Identifiers

PMID: 30007774
DOI: 10.1016/j.jacl.2018.06.003

Genes

ABCG5
ABCG8

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.

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First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.PMID 30007774Read ↗

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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 ↗

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

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Semantic proximity Read ↗

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