Rare cause of post-squalene disorder of cholesterol biosynthesis

Errors of cholesterol b i o s y n t h e s i s r e p r e s e n t a heterogeneous group of metabolic disorders. The aim of the authors of this article is to present a case of a patient with typical symptoms of a rare post-squalene disorder of cholesterol biosynthesis, its diagnostics and progress in n...

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Bibliographic Details
Main Authors: Zikavska Tatiana, Brucknerova Ingrid, Cervenova Olga
Format: Article
Language:English
Published: Paediatric Association of Nigeria 2024-07-01
Series:Nigerian Journal of Paediatrics
Subjects:
Online Access:https://www.njpaediatrics.com/index.php/njp/article/view/478