The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Abstract excerpt

Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it appears that all organs and systems may be affected. The main clinical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone Diseases, Developmental
• Share to Ichthyosis