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Sitosterolemia with double variant in ABCG8 gene: a case report

Abstract Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to the ABC (ATP-Binding Cassette) protei...

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Principais autores: Sara Isabel Noreña Gómez, Aura María Salazar-Solarte, María del Pilar Pereira Gómez, Susana Gómez Rojas, Juan Manuel Alfaro Velásquez
Format: Artigo
Sprog:Inglês
Udgivet: Springer 2026-06-01
Serier:Journal of Rare Diseases
Fag:
Lipid Metabolism
Inborn Errors
Sitosterolemia
Hypercholesterolemia
Online adgang:https://doi.org/10.1007/s44162-026-00205-2
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