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Journal Abstract Search

349 related items for PubMed ID: 32641618

  • 1. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
    Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T.
    Endocr J; 2020 Nov 28; 67(11):1099-1105. PubMed ID: 32641618
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  • 2. 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.
    J Thromb Haemost; 2017 Sep 28; 15(9):1859-1866. PubMed ID: 28696550
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  • 3. Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.
    Tanaka H, Watanabe Y, Hirano S, Tada H, Nomura A, Kawashiri MA, Takenaga M.
    Intern Med; 2020 Dec 01; 59(23):3033-3037. PubMed ID: 32713907
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  • 4. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Buonuomo PS, Iughetti L, Pisciotta L, Rabacchi C, Papadia F, Bruzzi P, Tummolo A, Bartuli A, Cortese C, Bertolini S, Calandra S.
    Atherosclerosis; 2017 Jul 01; 262():71-77. PubMed ID: 28521186
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  • 5. Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
    Nomura A, Emdin CA, Won HH, Peloso GM, Natarajan P, Ardissino D, Danesh J, Schunkert H, Correa A, Bown MJ, Samani NJ, Erdmann J, McPherson R, Watkins H, Saleheen D, Elosua R, Kawashiri MA, Tada H, Gupta N, Shah SH, Rader DJ, Gabriel S, Khera AV, Kathiresan S.
    Circ Genom Precis Med; 2020 Oct 01; 13(5):417-423. PubMed ID: 32862661
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  • 9. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.
    Tada H, Nomura A, Yamagishi M, Kawashiri MA.
    J Clin Lipidol; 2018 Oct 01; 12(5):1164-1168.e4. PubMed ID: 30007774
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  • 12. The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred.
    Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, Schaefer EJ.
    J Clin Lipidol; 2018 Oct 01; 12(1):152-161. PubMed ID: 29169939
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  • 17. Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia.
    Qin M, Luo P, Wen X, Li J.
    J Clin Lipidol; 2022 Oct 01; 16(1):33-39. PubMed ID: 34887220
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  • 20. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
    Park JH, Chung IH, Kim DH, Choi MH, Garg A, Yoo EG.
    J Clin Endocrinol Metab; 2014 May 01; 99(5):1512-8. PubMed ID: 24423340
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