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Article

[Clinical characteristics analysis of a case of sitosterolemia due to mutation of ABCG5 gene in a child with thrombocytopenia and abnormal liver function].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Nov 2021

Li J, Wang L, Zhang L Y

Abstract excerpt

谷固醇血症是一种罕见的常染色体隐性遗传脂质代谢异常疾病，其特征为血浆和组织中谷固醇的含量增高、蓄积。现报道1例以血小板减少和肝功能异常就诊，通过相关检查发现ABCG5基因突变确诊为谷固醇血症患儿，同时分析患儿的临床特征。.

Read the complete abstract on PubMed

Topics

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
Share to Hypercholesterolemia
Share to Intestinal Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Lipoproteins

Share to Phytosterols

Share to Thrombocytopenia

Source

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Identifiers

PMID: 34933433
DOI: 10.3760/cma.j.cn501113-20200108-00009
PMCID: PMC12814460

Genes

ABCG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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