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[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
Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Curr Med Chem. 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. Curr Med Chem. 2019. PMID: 29984642 Review.
Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence, characterized by increased levels of plasma plant sterols. ...Only 21 causative variants in ABCG5/ABCG8 are associated with macrothrombocytopenia. Most physicians still do not recogniz
Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence, characterized by increased levels of plasma plant s
Sitosterolemia: diagnosis, investigation, and management.
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F. Escolà-Gil JC, et al. Curr Atheroscler Rep. 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. Curr Atheroscler Rep. 2014. PMID: 24821603 Review.
The clinical manifestations include xanthomas, premature atherosclerosis, hemolytic anemia, and macrothrombocytopenia. It is noteworthy that abnormal hematological parameters may be the only clinical feature of sitosterolemic patients, suggesting that sitosterolemia
The clinical manifestations include xanthomas, premature atherosclerosis, hemolytic anemia, and macrothrombocytopenia. It is notewort …
Plant Sterols, Stanols, and Sitosterolemia.
Ajagbe BO, Othman RA, Myrie SB. Ajagbe BO, et al. J AOAC Int. 2015 May-Jun;98(3):716-723. doi: 10.5740/jaoacint.SGEAjagbe. Epub 2015 May 4. J AOAC Int. 2015. PMID: 25941971 Free PMC article. Review.
Thus the disease is characterized by substantially elevated serum plant sterols and stanols, with moderate to high plasma cholesterol levels, and increased risk of premature atherosclerosis. Hematologic abnormalities including macrothrombocytopenia, stomatocytosis and hemo …
Thus the disease is characterized by substantially elevated serum plant sterols and stanols, with moderate to high plasma cholesterol levels …
ABCG5 and ABCG8: more than a defense against xenosterols.
Patel SB, Graf GA, Temel RE. Patel SB, et al. J Lipid Res. 2018 Jul;59(7):1103-1113. doi: 10.1194/jlr.R084244. Epub 2018 May 4. J Lipid Res. 2018. PMID: 29728459 Free PMC article. Review.
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of how dietary sterols are excreted and how cholesterol is eliminated from the body. Two proteins, ABCG5 and ABCG8, encoded by the sitosterolemia
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of how d …
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. ...Accurate characterization of sitosterolemia helps us determine appropriate management. SUMMARY: Background Sitosterolemia (STSL) is a recessive inherited di …
Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. ...Accurate characterization of …