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Items: 1 to 20 of 128

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

PMID:
24423340
2.

Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.

Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W.

J Dermatol. 2016 Nov;43(11):1340-1344. doi: 10.1111/1346-8138.13511. Epub 2016 Jul 12.

PMID:
27401767
3.

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 Jan-Feb;10(1):204-8. doi: 10.1016/j.jacl.2015.09.011. Epub 2015 Oct 22.

PMID:
26892138
4.

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.

5.

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
6.

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.

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 May 4;262:71-77. doi: 10.1016/j.atherosclerosis.2017.05.002. [Epub ahead of print]

PMID:
28521186
8.

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.

9.

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
10.

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Tada H, Kawashiri MA, Okada H, Endo S, Toyoshima Y, Konno T, Nohara A, Inazu A, Takao A, Mabuchi H, Yamagishi M, Hayashi K.

J Atheroscler Thromb. 2016 Jul 1;23(7):884-90. doi: 10.5551/jat.34827. Epub 2016 May 10.

11.

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.

12.

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
13.

A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.

Ono S, Matsuda J, Saito A, Yamamoto T, Fujimoto W, Shimizu H, Dateki S, Ouchi K.

Clin Pediatr Endocrinol. 2017 Jan;26(1):17-23. doi: 10.1297/cpe.26.17. Epub 2017 Jan 31.

14.

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.

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

PMID:
24623560
16.

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.

17.

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

Renner C, Connor WE, Steiner RD.

Clin Med Res. 2016 Jun;14(2):103-8. doi: 10.3121/cmr.2016.1294. Epub 2016 May 26.

18.

Non-cholesterol sterols and cholesterol metabolism in sitosterolemia.

Othman RA, Myrie SB, Jones PJ.

Atherosclerosis. 2013 Dec;231(2):291-9. doi: 10.1016/j.atherosclerosis.2013.09.038. Epub 2013 Oct 10. Review.

PMID:
24267242
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.

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

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