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Human malformation syndromes due to inborn errors of cholesterol synthesis.

Authors
Type
Published Article
Journal
Current Opinion in Pediatrics
1040-8703
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Volume
15
Issue
6
Pages
607–613
Identifiers
PMID: 14631207
Source
Medline
License
Unknown

Abstract

Recognition of the biochemical defect in these syndromes has given insight into the role that cholesterol plays during normal development, into understanding the pathophysiological processes that underlie the clinical problems found in these disorders, and into developing therapeutic interventions.

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