Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease

Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease

Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular. TD is linked with a mutation of the ABCA1 gene codifying for the transport protein ABCA1 which, in normal conditions, enables the efflux of choles...

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Bibliographic Details
Main Authors: Ornella Guardamagna, Renato Bonardi, Raffaele Buganza, Francesco Martino, Livia Pisciotta, Luisa de Sanctis, Pier Paolo Bassareo
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Cardiogenetics
Subjects:
hypoalphalipoproteinemia
atherosclerosis
cardiovascular disease
HDL cholesterol
Tangier disease
Online Access:https://www.mdpi.com/2035-8148/14/4/15

Internet

https://www.mdpi.com/2035-8148/14/4/15

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