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370 related items for PubMed ID: 24166850
1. 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; 89(3):320-4. PubMed ID: 24166850 [Abstract] [Full Text] [Related]
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; 15(9):1859-1866. PubMed ID: 28696550 [Abstract] [Full Text] [Related]
3. A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. Wang G, Wang Z, Liang J, Cao L, Bai X, Ruan C. Acta Haematol; 2011 Sep; 126(2):95-8. PubMed ID: 21576934 [Abstract] [Full Text] [Related]
4. [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. Wang GF, Wang ZY, Cao LJ, Jiang MH, Sun XH, Bai X, Ruan CG. Zhonghua Xue Ye Xue Za Zhi; 2011 May; 32(5):331-6. PubMed ID: 21729603 [Abstract] [Full Text] [Related]
5. Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia. Wang G, Cao L, Wang Z, Jiang M, Sun X, Bai X, Ruan C. Clin Appl Thromb Hemost; 2012 Nov; 18(6):582-7. PubMed ID: 22297561 [Abstract] [Full Text] [Related]
6. 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 Nov; 15(5):690-698. PubMed ID: 34304999 [Abstract] [Full Text] [Related]
7. 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; 262():71-77. PubMed ID: 28521186 [Abstract] [Full Text] [Related]
9. Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed. Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS. Ann Hepatol; 2015 Jul; 16(6):970-978. PubMed ID: 29055934 [Abstract] [Full Text] [Related]
10. Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. Kanaji T, Kanaji S, Montgomery RR, Patel SB, Newman PJ. Blood; 2013 Oct 10; 122(15):2732-42. PubMed ID: 23926302 [Abstract] [Full Text] [Related]
11. 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 10; 16(1):33-39. PubMed ID: 34887220 [Abstract] [Full Text] [Related]
12. [Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. Cao LJ, Yu ZJ, Jiang M, Bai X, Su J, Dai L, Ruan CG, Wang ZY. Zhonghua Yi Xue Za Zhi; 2019 Apr 23; 99(16):1226-1231. PubMed ID: 31060161 [Abstract] [Full Text] [Related]
13. Sitosterolemia: a new mutation in a Mediterranean patient. Melenotte C, Carrié A, Serratrice J, Weiller PJ. J Clin Lipidol; 2014 Apr 23; 8(4):451-4. PubMed ID: 25110228 [Abstract] [Full Text] [Related]
14. 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]
15. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. Kaya Z, Niu DM, Yorulmaz A, Tekin A, Gürsel T. Pediatr Blood Cancer; 2014 Aug 18; 61(8):1457-9. PubMed ID: 24623560 [Abstract] [Full Text] [Related]
16. 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 18; 99(5):1512-8. PubMed ID: 24423340 [Abstract] [Full Text] [Related]
17. Unusual presentations of sitosterolemia limited to hematological abnormalities: A report of four cases presenting with stomatocytic anemia and thrombocytopenia with macrothrombocytes. Zheng J, Ma J, Wu RH, Zhang X, Su Y, Zhang R, Zhang LQ. Am J Hematol; 2019 May 18; 94(5):E124-E127. PubMed ID: 30697800 [No Abstract] [Full Text] [Related]
18. Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH, Meijer AB, Hoogendijk AJ, Kuijpers TW. Blood Adv; 2024 May 28; 8(10):2466-2477. PubMed ID: 38513134 [Abstract] [Full Text] [Related]
19. [Sitosterolemia (phytosterolemia)]. Lütjohann D. Internist (Berl); 2019 Aug 28; 60(8):871-877. PubMed ID: 31254003 [Abstract] [Full Text] [Related]
20. Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report. Keller S, Prechtl D, Aslanidis C, Ceglarek U, Thiery J, Schmitz G, Jahreis G. Eur J Med Genet; 2011 Aug 28; 54(4):e458-60. PubMed ID: 21664501 [Abstract] [Full Text] [Related] Page: [Next] [New Search]