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Results: 1 to 20 of 47

1.

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C.

Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.

PMID:
22981120
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
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;126(2):95-8. doi: 10.1159/000327248. Epub 2011 May 12.

PMID:
21576934
[PubMed - indexed for MEDLINE]
4.

Effects of long-term parenteral nutrition on serum lipids, plant sterols, cholesterol metabolism, and liver histology in pediatric intestinal failure.

Kurvinen A, Nissinen MJ, Gylling H, Miettinen TA, Lampela H, Koivusalo AI, Rintala RJ, Pakarinen MP.

J Pediatr Gastroenterol Nutr. 2011 Oct;53(4):440-6. doi: 10.1097/MPG.0b013e3182212130.

PMID:
21543999
[PubMed - indexed for MEDLINE]
5.

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC.

Hum Mol Genet. 2010 Nov 15;19(22):4313-8. doi: 10.1093/hmg/ddq352. Epub 2010 Aug 18.

PMID:
20719861
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
20543520
[PubMed - indexed for MEDLINE]
Free Article
7.

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, Lo MY, Kwok CF, Kratz LE, Ho LT.

J Inherit Metab Dis. 2010 Aug;33(4):437-43. doi: 10.1007/s10545-010-9126-2. Epub 2010 Jun 3.

PMID:
20521169
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study.

Lütjohann D, von Bergmann K, Sirah W, Macdonell G, Johnson-Levonas AO, Shah A, Lin J, Sapre A, Musliner T.

Int J Clin Pract. 2008 Oct;62(10):1499-510. doi: 10.1111/j.1742-1241.2008.01841.x.

PMID:
18822021
[PubMed - indexed for MEDLINE]
10.

Phytosterolemia in parenteral nutrition patients: implications for liver disease development.

Llop JM, Virgili N, Moreno-Villares JM, García-Peris P, Serrano T, Forga M, Solanich J, Pita AM.

Nutrition. 2008 Nov-Dec;24(11-12):1145-52. doi: 10.1016/j.nut.2008.06.017. Epub 2008 Jul 24.

PMID:
18656327
[PubMed - indexed for MEDLINE]
11.

Efficacy and safety of ezetimibe 40 mg vs. ezetimibe 10 mg in the treatment of patients with homozygous sitosterolaemia.

Musliner T, Cselovszky D, Sirah W, McCrary Sisk C, Sapre A, Salen G, Lütjohann D, von Bergmann K.

Int J Clin Pract. 2008 Jul;62(7):995-1000. doi: 10.1111/j.1742-1241.2008.01786.x. Epub 2008 May 14.

PMID:
18484971
[PubMed - indexed for MEDLINE]
12.

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis.

Kidambi S, Patel SB.

J Clin Pathol. 2008 May;61(5):588-94. doi: 10.1136/jcp.2007.049775. Review.

PMID:
18441155
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.

Kratz M, Kannenberg F, Gramenz E, Berning B, Trautwein E, Assmann G, Rust S.

Eur J Clin Nutr. 2007 Jul;61(7):896-905. Epub 2007 Jan 17.

PMID:
17228349
[PubMed - indexed for MEDLINE]
15.

Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.

Su Y, Wang Z, Yang H, Cao L, Liu F, Bai X, Ruan C.

Haematologica. 2006 Oct;91(10):1392-5.

PMID:
17018391
[PubMed - indexed for MEDLINE]
Free Article
16.

Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.

Salen G, Starc T, Sisk CM, Patel SB.

Gastroenterology. 2006 May;130(6):1853-7.

PMID:
16697747
[PubMed - indexed for MEDLINE]
17.

Liver transplantation in a patient with sitosterolemia and cirrhosis.

Miettinen TA, Klett EL, Gylling H, Isoniemi H, Patel SB.

Gastroenterology. 2006 Feb;130(2):542-7.

PMID:
16472606
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols.

Hazard SE, Patel SB.

Pflugers Arch. 2007 Feb;453(5):745-52. Epub 2006 Jan 27. Review.

PMID:
16440216
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.

Connor WE, Lin DS, Pappu AS, Frohlich J, Gerhard G.

Lipids. 2005 Sep;40(9):919-23.

PMID:
16331855
[PubMed - indexed for MEDLINE]
20.

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response.

Naoumova RP, Tosi I, Patel D, Neuwirth C, Horswell SD, Marais AD, van Heyningen C, Soutar AK.

Arterioscler Thromb Vasc Biol. 2005 Dec;25(12):2654-60. Epub 2005 Oct 13.

PMID:
16224054
[PubMed - indexed for MEDLINE]
Free Article

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