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Article

Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2022

Huang Yunhua, Qin Yuanyuan, Liao Lin, Lin Faquan

Abstract excerpt

Familial chylomicronemia syndrome (FCS) caused by mutations of lipoprotein lipase (LPL) gene and other triglyceride-rich lipoprotein genes related with catabolism is an autosomal recessive rare disease. Herein, we report an infant with FCS and review the relevant literature. The proband is a male infant with FCS for which the whole-exome sequencing (WES), sanger sequencing and copy number variation (CNV) based on...

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Identifiers

PMID: 36252692
DOI: 10.1016/j.cca.2022.10.001

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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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