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Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female

BACKGROUND : Sitosterolaemia is a rare, autosomal recessive dyslipidaemia with increased absorption of dietary plant sterol and often presents with hypercholesterolaemia, xanthomas, and haematologic manifestations. If left untreated, sitosterolaemia can lead to high symptomatic burden and coronary a...

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Detalles Bibliográficos
Autores principales: Frederiksen, Tanja Charlotte, Mortensen, Martin Bødtker, Kanstrup, Helle Lynge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8276620/
https://www.ncbi.nlm.nih.gov/pubmed/34268478
http://dx.doi.org/10.1093/ehjcr/ytab188