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Family sitosterolemia: report of two cases in Colombia.

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis - 1 Jan 2000

Castellanos Alejandro A, Castillo María Del Carmen, Montoya Laura, Ruiz María Elvira, Zapateiro Jorge L, Nogueira Juan Patricio

Abstract excerpt

Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers,...

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PMID: 38443216
DOI: 10.1016/j.arteri.2024.02.003

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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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