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Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.

Genetic testing and molecular biomarkers - 1 Oct 2023

Jackson Jayden, Farajzadeh Justin, Turner Robert, Yukutake Kevin, Baghdasaryan Eric, Denis Emily St, Barseghyan Tigran, Herrera Pamela, Begaj Sajo, Pietruszka Marvin, Valles-Ayoub Yadira

Abstract excerpt

Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the LIPA gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia, which can increase the likelihood of complications in both...

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PMID: 37903030
DOI: 10.1089/gtmb.2023.0003

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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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