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Article

Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.

Journal of clinical lipidology - 1 Jan 2015

Huang Cheng-Hung, Chiu Pao-Chin, Liu Hao-Chuan, Lu Yung-Hsiu, Huang Jun-Kai, Charng Min-Ji, Niu Dau-Ming

Abstract excerpt

BACKGROUND: Clinical observation and treatment of children with homozygous familial hypercholesterolemia (HoFH) has rarely been reported. We report clinical observations and treatment of 10 ethnic Chinese children with HoFH due to low-density lipoprotein receptor (LDLR) defect. OBJECTIVES: In children with HoFH, we evaluated the response to conventional cholesterol-lowering drug therapy and performed LDLR gene...

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Source

Identifiers

PMID: 25911080
DOI: 10.1016/j.jacl.2014.11.011

Genes

LDLR

Variants

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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