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Article

Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome.

Journal of clinical lipidology - 1 Jan 2000

Rosenson Robert S, Najera Sherwin D, Hegele Robert A

Abstract excerpt

Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that...

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Identifiers

PMID: 28391899
DOI: 10.1016/j.jacl.2016.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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