{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lee JH"],"funding":["Korea Health Technology R&amp;D Project"],"pagination":["e0238079"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7449458"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(8)"],"pubmed_abstract":["<h4>Background</h4>Sitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays, meaning that sitosterolemia diagnosis can often be difficult, especially with many clinical features overlapping with familial hypercholesterolemia. With such complications resulting in increasing reports of misdiagnosis, the prevalence of sitosterolemia is predicted to be much higher than previously reported.<h4>Methods</h4>Gas chromatography-mass spectrometry was utilized to measure sitosterol levels of normocholesterolemic and hypercholesterolemic children. Subsequently, an epidemiologically determined cutoff level of sitostero"],"journal":["PloS one"],"pubmed_title":["High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence."],"pmcid":["PMC7449458"],"funding_grant_id":["A120030"],"pubmed_authors":["Ki CS","Lee K","Jun SH","Song DY","Song SH","Shin CH","Song J","Lee JH"],"additional_accession":[]},"is_claimable":false,"name":"High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.","description":"<h4>Background</h4>Sitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays, meaning that sitosterolemia diagnosis can often be difficult, especially with many clinical features overlapping with familial hypercholesterolemia. With such complications resulting in increasing reports of misdiagnosis, the prevalence of sitosterolemia is predicted to be much higher than previously reported.<h4>Methods</h4>Gas chromatography-mass spectrometry was utilized to measure sitosterol levels of normocholesterolemic and hypercholesterolemic children. Subsequently, an epidemiologically determined cutoff level of sitostero","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020","modification":"2026-05-27T17:22:33.031Z","creation":"2020-09-06T07:07:27Z"},"accession":"S-EPMC7449458","cross_references":{"pubmed":["32845916"],"doi":["10.1371/journal.pone.0238079"]}}