Article
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
Journal of pediatric gastroenterology and nutrition - 1 Oct 2018
Lipiński Patryk, Ługowska Agnieszka, Zakharova Ekaterina Y, Socha Piotr, Tylki-Szymańska Anna
Abstract excerpt
BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early-onset, severe, and lethal phenotype, known as Wolman disease, or a late-onset, attenuated phenotype, cholesteryl ester storage disease (CESD). The aim of our study was to describe the clinical presentation of CESD, focusing on the first noted abnormalities in patients. A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.