Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management
Author:
Affiliation:
1. Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://e-apem.org/upload/pdf/apem-21-7.pdf
Reference66 articles.
1. Sitosterolemia. GeneReviews [Internet]. Seattle (WA). University of Washington. 2016. updated 2013 Apr 4. cited 2016 Feb 29. Available from: http://www.ncbi.nlm.nih.gov/books/NBK131810/
2. Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters
3. Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively
4. Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology
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