Sitosterolemia—10 years observation in two sisters

Abstract Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis during the work‐up of patients with dysl...

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Bibliographic Details
Main Authors: Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12038