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Article

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Journal of clinical lipidology - 1 Jan 2000

Chora Joana Rita, Alves Ana Catarina, Medeiros Ana Margarida, Mariano Cibelle, Lobarinhas Goreti, Guerra António, Mansilha Helena, Cortez-Pinto Helena, Bourbon Mafalda

Abstract excerpt

BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. OBJECTIVE: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. METHODS: Coding, splice regions,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28502505
DOI: 10.1016/j.jacl.2016.11.002

Genes

LIPA

Provenance

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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