PMID 24166850 2014 Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
PMID 20521169 2010 We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.
PMID 17976197 2007 Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
PMID 25665839 2015 Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
PMID 17228349 2007 Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.
PMID 29353225 2018 Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
PMID 29886606 2018 [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
PMID 26813946 2016 Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.
PMID 20719861 2010 Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
PMID 24423340 2014 Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
PMID 21729603 2011 [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
PMID 19111681 2009 Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.