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Items: 1 to 20 of 109

1.

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 Jul-Aug;54(4):e458-60. doi: 10.1016/j.ejmg.2011.05.003. Epub 2011 May 23.

PMID:
21664501
2.

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. doi: 10.1177/1076029611435090. Epub 2012 Jan 31.

PMID:
22297561
3.

ATP-binding cassette G5/G8 deficiency causes hypertriglyceridemia by affecting multiple metabolic pathways.

Méndez-González J, Julve J, Rotllan N, Llaverias G, Blanco-Vaca F, Escolà-Gil JC.

Biochim Biophys Acta. 2011 Dec;1811(12):1186-93. doi: 10.1016/j.bbalip.2011.07.019. Epub 2011 Aug 10.

PMID:
21855652
4.

Plant Sterols, Stanols, and Sitosterolemia.

Ajagbe BO, Othman RA, Myrie SB.

J AOAC Int. 2015 May-Jun;98(3):716-23. doi: 10.5740/jaoacint.SGEAjagbe. Epub 2015 May 4. Review.

5.

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.

Heimerl S, Langmann T, Moehle C, Mauerer R, Dean M, Beil FU, von Bergmann K, Schmitz G.

Hum Mutat. 2002 Aug;20(2):151.

PMID:
12124998
6.

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. doi: 10.1002/ajh.23619.

7.

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.

Hubacek JA, Berge KE, Cohen JC, Hobbs HH.

Hum Mutat. 2001 Oct;18(4):359-60.

PMID:
11668628
8.

Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.

Hu M, Yuen YP, Kwok JS, Griffith JF, Tomlinson B.

J Atheroscler Thromb. 2014;21(9):989-95. Epub 2014 Jul 24.

9.

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. doi: 10.1182/blood-2013-06-510461. Epub 2013 Aug 7.

10.

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;61(8):1457-9. doi: 10.1002/pbc.24934. Epub 2014 Jan 16.

PMID:
24623560
11.

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;126(2):95-8. doi: 10.1159/000327248. Epub 2011 May 12.

PMID:
21576934
12.

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. doi: 10.1210/jc.2013-3274. Epub 2014 Jan 1. Review.

PMID:
24423340
13.

[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. Chinese.

PMID:
21729603
14.

Sitosterolemia: a new mutation in a Mediterranean patient.

Melenotte C, Carrié A, Serratrice J, Weiller PJ.

J Clin Lipidol. 2014 Jul-Aug;8(4):451-4. doi: 10.1016/j.jacl.2014.06.003. Epub 2014 Jun 11.

PMID:
25110228
15.

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.

Togo M, Hashimoto Y, Iso-O N, Kurano M, Hara M, Kadowaki T, Koike K, Tsukamoto K.

Clin Chim Acta. 2009 Mar;401(1-2):165-9. doi: 10.1016/j.cca.2008.10.026. Epub 2008 Nov 5.

PMID:
19111681
16.

The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish.

Horenstein RB, Mitchell BD, Post WS, Lütjohann D, von Bergmann K, Ryan KA, Terrin M, Shuldiner AR, Steinle NI.

Arterioscler Thromb Vasc Biol. 2013 Feb;33(2):413-9. doi: 10.1161/ATVBAHA.112.245480. Epub 2012 Dec 13.

17.

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

Mannucci L, Guardamagna O, Bertucci P, Pisciotta L, Liberatoscioli L, Bertolini S, Irace C, Gnasso A, Federici G, Cortese C.

Eur J Clin Invest. 2007 Dec;37(12):997-1000. Epub 2007 Nov 1.

PMID:
17976197
18.

Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism.

Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S.

J Atheroscler Thromb. 2010 Sep 30;17(9):891-900. Epub 2010 Jun 11. Review.

19.

Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals.

Myrie SB, Mymin D, Triggs-Raine B, Jones PJ.

Am J Clin Nutr. 2012 Apr;95(4):837-44. doi: 10.3945/ajcn.111.028985. Epub 2012 Feb 29.

20.

Sitosterolemia.

Salen G, Patel S, Batta AK.

Cardiovasc Drug Rev. 2002 Winter;20(4):255-70. Review.

PMID:
12481199
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