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397 related items for PubMed ID: 24423340
1. 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; 99(5):1512-8. PubMed ID: 24423340 [Abstract] [Full Text] [Related]
3. [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. Fang D, Liang LL, Qiu WJ, Fan YJ, Sun Y, Yan H, Yu YG, Gu XF. Zhonghua Er Ke Za Zhi; 2018 Jun 02; 56(6):435-439. PubMed ID: 29886606 [Abstract] [Full Text] [Related]
5. 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 Jun 02; 12(5):1164-1168.e4. PubMed ID: 30007774 [Abstract] [Full Text] [Related]
6. 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. Lipids Health Dis; 2022 Jan 18; 21(1):11. PubMed ID: 35042526 [Abstract] [Full Text] [Related]
7. 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 Jan 18; 12(1):152-161. PubMed ID: 29169939 [Abstract] [Full Text] [Related]
8. Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W. J Dermatol; 2016 Nov 18; 43(11):1340-1344. PubMed ID: 27401767 [Abstract] [Full Text] [Related]
9. Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. Colima Fausto AG, González García JR, Wong Ley Madero LE, Magaña Torres MT. J Clin Lipidol; 2016 Nov 18; 10(1):204-8. PubMed ID: 26892138 [Abstract] [Full Text] [Related]
10. Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. Huang D, Zhou Q, Chao YQ, Zou CC. Medicine (Baltimore); 2019 Apr 18; 98(15):e15013. PubMed ID: 30985648 [Abstract] [Full Text] [Related]
11. Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review. Su X, Shao Y, Lin Y, Zhao X, Zhang W, Jiang M, Huang Y, Zeng C, Liu L, Li X. J Clin Lipidol; 2019 Apr 18; 13(2):246-250. PubMed ID: 30782472 [Abstract] [Full Text] [Related]
12. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C. Am J Hematol; 2014 Mar 18; 89(3):320-4. PubMed ID: 24166850 [Abstract] [Full Text] [Related]
13. 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 18; 15(9):1859-1866. PubMed ID: 28696550 [Abstract] [Full Text] [Related]
14. Sitosterolemia: a new mutation in a Mediterranean patient. Melenotte C, Carrié A, Serratrice J, Weiller PJ. J Clin Lipidol; 2014 Sep 18; 8(4):451-4. PubMed ID: 25110228 [Abstract] [Full Text] [Related]
15. Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. Yagasaki H, Nakane T, Toda T, Kobayashi K, Aoyama K, Ichikawa T, Sugita K. J Pediatr Endocrinol Metab; 2017 Aug 28; 30(9):1007-1011. PubMed ID: 28771437 [Abstract] [Full Text] [Related]
16. Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia. Sun W, Zhang T, Zhang X, Wang J, Chen Y, Long Y, Zhang G, Wang Y, Chen Y, Fang T, Chen M. J Gene Med; 2020 Aug 28; 22(8):e3185. PubMed ID: 32166861 [Abstract] [Full Text] [Related]
17. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients. Kaya Z, Sal E, Yorulmaz A, Hsieh YP, Gülen H, Yıldırım AT, Niu DM, Tekin A. J Clin Lipidol; 2021 Aug 28; 15(5):690-698. PubMed ID: 34304999 [Abstract] [Full Text] [Related]
18. 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 [Abstract] [Full Text] [Related]
19. Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. Wang Y, Guo YL, Dong QT, Li JJ. J Clin Lipidol; 2019 Dec 01; 13(1):49-53. PubMed ID: 30528907 [Abstract] [Full Text] [Related]
20. Diagnosis and Management of Sitosterolemia 2021. Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M. J Atheroscler Thromb; 2021 Aug 01; 28(8):791-801. PubMed ID: 33907061 [Abstract] [Full Text] [Related] Page: [Next] [New Search]