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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 2
2003 8
2005 1
2006 1
2007 1
2008 3
2009 4
2010 2
2013 2
2014 3
2017 1
2019 2
2020 1
2021 1
2022 3
2023 1
2024 0

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31 results

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Page 1
The Inherited Hypercholesterolemias.
Loh WJ, Watts GF. Loh WJ, et al. Endocrinol Metab Clin North Am. 2022 Sep;51(3):511-537. doi: 10.1016/j.ecl.2022.02.006. Epub 2022 Jul 4. Endocrinol Metab Clin North Am. 2022. PMID: 35963626 Review.
In this review, we discuss familial hypercholesterolemia (FH), FH-mimics (eg, polygenic hypercholesterolemia [PH], FCH, sitosterolemia), and other inherited forms of hypercholesterolemia (eg, hyper-lipoprotein(a) levels [hyper-Lp(a)]). ...
In this review, we discuss familial hypercholesterolemia (FH), FH-mimics (eg, polygenic hypercholesterolemia [PH], FCH, sitosterolemia
[Sitosterolemia (phytosterolemia)].
Lütjohann D. Lütjohann D. Internist (Berl). 2019 Aug;60(8):871-877. doi: 10.1007/s00108-019-0635-2. Internist (Berl). 2019. PMID: 31254003 Review. German.
Sitosterolemia or phytosterolemia is a rare autosomal recessive hereditary lipid storage disorder. ...Phytosterols are found mainly in vegetable oils, margarine, nuts, grains, soybeans and avocados. Patients with sitosterolemia show extreme phenotypic heterogeneity
Sitosterolemia or phytosterolemia is a rare autosomal recessive hereditary lipid storage disorder. ...Phytosterols are found mainly i
Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X. Zhou Z, et al. Lipids Health Dis. 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. Lipids Health Dis. 2022. PMID: 35042526 Free PMC article. Review.
The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sitosterolemia and the treatment experience were described. ...Thirty-nine patients (71%) exhibited mutations in the ABCG5 gene, 15 patients …
The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sito
Recent advances in ABCG5 and ABCG8 variants.
Fong V, Patel SB. Fong V, et al. Curr Opin Lipidol. 2021 Apr 1;32(2):117-122. doi: 10.1097/MOL.0000000000000734. Curr Opin Lipidol. 2021. PMID: 33395105 Free PMC article. Review.
PURPOSE OF REVIEW: In this review, we summarize the genetics and mechanisms of sitosterolemia and sterol trafficking, and provide an update on the understanding of the prevalence of ABCG5 and ABCG8 variants and their role in human disease. ...However, recently there was th …
PURPOSE OF REVIEW: In this review, we summarize the genetics and mechanisms of sitosterolemia and sterol trafficking, and provide an …
Ezetimibe.
Darkes MJ, Poole RM, Goa KL. Darkes MJ, et al. Am J Cardiovasc Drugs. 2003;3(1):67-76; discussion 77-8. doi: 10.2165/00129784-200303010-00007. Am J Cardiovasc Drugs. 2003. PMID: 14727947 Review.
Ezetimibe, a synthetic 2-azetidinone, is the first of a new class of compounds that selectively inhibits the absorption of cholesterol and related plant sterols in the intestine. ...Ezetimibe plus a statin reduced LDL-C levels more than the maximum statin dose alone in a t …
Ezetimibe, a synthetic 2-azetidinone, is the first of a new class of compounds that selectively inhibits the absorption of cholestero …
Xanthomas: clinical and pathophysiological relations.
Zak A, Zeman M, Slaby A, Vecka M. Zak A, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Jun;158(2):181-8. doi: 10.5507/bp.2014.016. Epub 2014 Apr 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014. PMID: 24781043 Free article. Review.
Tendinous and tuberous xanthomas are typical for autosomal dominant hypercholesterolemia, as well as for some rare conditions, such as cerebrotendinous xanthomatosis and familial beta-sitosterolemia. In patients with familial hypercholesterolemia, the presence of tendinous …
Tendinous and tuberous xanthomas are typical for autosomal dominant hypercholesterolemia, as well as for some rare conditions, such as cereb …
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D, Zhou Q, Chao YQ, Zou CC. Huang D, et al. Medicine (Baltimore). 2019 Apr;98(15):e15013. doi: 10.1097/MD.0000000000015013. Medicine (Baltimore). 2019. PMID: 30985648 Free PMC article. Review.
INTERVENTIONS: The 2 patients received dietary modifications without pharmaceuticals treatment. OUTCOMES: A c.1166G>A (Arg389His) homozygosis mutation in exon 9 was observed in case 1, whereas a c.751C>T (Gln251*) homozygosis mutation in exon 6 was found in case 2
INTERVENTIONS: The 2 patients received dietary modifications without pharmaceuticals treatment. OUTCOMES: A c.1166G>A (Arg389His) …
Noncholesterol sterols.
Vecka M, Zak A, Tvrzická E. Vecka M, et al. Acta Univ Carol Med Monogr. 2008;154:5-101. Acta Univ Carol Med Monogr. 2008. PMID: 19283968 Review.
The diversity of sterol molecules produced and resistance of their tetracyclic core to enzymatic activities implies crucial importance of sterols during the ontogenesis of multicellular organisms. First oxygen appeared on the Earth app. 2.7 billion years ago and since that …
The diversity of sterol molecules produced and resistance of their tetracyclic core to enzymatic activities implies crucial importance of st …
ABC Transport Proteins in Cardiovascular Disease-A Brief Summary.
Schumacher T, Benndorf RA. Schumacher T, et al. Molecules. 2017 Apr 6;22(4):589. doi: 10.3390/molecules22040589. Molecules. 2017. PMID: 28383515 Free PMC article. Review.
In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia. These findings led to the understanding of those transporter's function in cellular choles …
In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes …
Genetic basis of sitosterolemia.
Lee MH, Lu K, Patel SB. Lee MH, et al. Curr Opin Lipidol. 2001 Apr;12(2):141-9. doi: 10.1097/00041433-200104000-00007. Curr Opin Lipidol. 2001. PMID: 11264985 Free PMC article. Review.
There thus exists a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols. In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorb and retain not only cholesterol but also all other sterols, in …
There thus exists a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols. In sitosterolem
31 results