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Results: 1 to 20 of 144

1.

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Arterioscler Thromb Vasc Biol. 2013 Dec;33(12):2909-14. doi: 10.1161/ATVBAHA.113.302426. Epub 2013 Sep 26.

PMID:
24072694
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.

Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G.

Nutr Metab Cardiovasc Dis. 2013 Aug;23(8):732-6. doi: 10.1016/j.numecd.2012.05.009. Epub 2012 Jul 12.

PMID:
22795295
[PubMed - indexed for MEDLINE]
3.

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ.

Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29.

PMID:
23424026
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S.

Mol Genet Metab. 2009 Jun;97(2):143-8. doi: 10.1016/j.ymgme.2009.02.007. Epub 2009 Feb 26.

PMID:
19307143
[PubMed - indexed for MEDLINE]
5.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
6.

Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.

Motazacker MM, Peter J, Treskes M, Shoulders CC, Kuivenhoven JA, Hovingh GK.

Arterioscler Thromb Vasc Biol. 2013 Jul;33(7):1521-8. doi: 10.1161/ATVBAHA.113.301505. Epub 2013 May 16. Erratum in: Arterioscler Thromb Vasc Biol. 2013 Aug;33(8):e128.

PMID:
23685560
[PubMed - indexed for MEDLINE]
Free Article
7.

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S.

Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.

PMID:
22227072
[PubMed - indexed for MEDLINE]
8.

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.

Atherosclerosis. 2011 Dec;219(2):663-6. doi: 10.1016/j.atherosclerosis.2011.08.004. Epub 2011 Aug 10.

PMID:
21872251
[PubMed - indexed for MEDLINE]
9.

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

Widhalm K, Dirisamer A, Lindemayr A, Kostner G.

J Inherit Metab Dis. 2007 Apr;30(2):239-47. Epub 2007 Mar 8.

PMID:
17347910
[PubMed - indexed for MEDLINE]
10.

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G.

Hum Genet. 1995 May;95(5):491-4.

PMID:
7759067
[PubMed - indexed for MEDLINE]
11.

Low-density lipoprotein apheresis: an evidence-based analysis.

Health Quality Ontario.

Ont Health Technol Assess Ser. 2007;7(5):1-101. Epub 2006 Nov 1.

PMID:
23074505
[PubMed]
Free PMC Article
12.

Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.

Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M.

Atherosclerosis. 2009 Nov;207(1):162-7. doi: 10.1016/j.atherosclerosis.2009.04.027. Epub 2009 May 4.

PMID:
19477448
[PubMed - indexed for MEDLINE]
13.

SCARB1 single nucleotide polymorphism (rs5888) is associated with serum lipid profile and myocardial infarction in an age- and gender-dependent manner.

Stanislovaitiene D, Lesauskaite V, Zaliuniene D, Smalinskiene A, Gustiene O, Zaliaduonyte-Peksiene D, Tamosiunas A, Luksiene D, Petkeviciene J, Zaliunas R.

Lipids Health Dis. 2013 Mar 5;12:24. doi: 10.1186/1476-511X-12-24.

PMID:
23510561
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.

Al-Hinai AT, Al-Abri A, Al-Dhuhli H, Al-Waili K, Al-Sabti H, Al-Yaarubi S, Al-Hashmi K, Banerjee Y, Al-Zakwani I, Al-Rasadi K.

Angiology. 2013 May;64(4):287-92. doi: 10.1177/0003319712465171. Epub 2012 Nov 15.

PMID:
23162007
[PubMed - indexed for MEDLINE]
15.

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.

Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G.

Arterioscler Thromb Vasc Biol. 1995 Jun;15(6):773-8.

PMID:
7773732
[PubMed - indexed for MEDLINE]
Free Article
16.

Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.

Freudenberg F, Bufler P, Ensenauer R, Lohse P, Koletzko S.

Z Gastroenterol. 2013 Oct;51(10):1184-7. doi: 10.1055/s-0033-1350463. Epub 2013 Oct 11.

PMID:
24122380
[PubMed - indexed for MEDLINE]
17.

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

Bernstein DL, H├╝lkova H, Bialer MG, Desnick RJ.

J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. Review.

PMID:
23485521
[PubMed - indexed for MEDLINE]
Free Article
18.

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

Wang L, Lin J, Liu S, Cao S, Liu J, Yong Q, Yang Y, Wu B, Pan X, Du L, Wu C, Qin Y, Chen B.

Nutr Metab Cardiovasc Dis. 2009 Jul;19(6):391-400. doi: 10.1016/j.numecd.2008.07.011. Epub 2008 Dec 13.

PMID:
19073363
[PubMed - indexed for MEDLINE]
19.

Lovastatin therapy for cholesterol ester storage disease in two sisters.

Tarantino MD, McNamara DJ, Granstrom P, Ellefson RD, Unger EC, Udall JN Jr.

J Pediatr. 1991 Jan;118(1):131-5.

PMID:
1986080
[PubMed - indexed for MEDLINE]
20.

A low prevalence of coronary heart disease among subjects with increased high-density lipoprotein cholesterol levels, including those with plasma cholesteryl ester transfer protein deficiency.

Moriyama Y, Okamura T, Inazu A, Doi M, Iso H, Mouri Y, Ishikawa Y, Suzuki H, Iida M, Koizumi J, Mabuchi H, Komachi Y.

Prev Med. 1998 Sep-Oct;27(5 Pt 1):659-67.

PMID:
9808796
[PubMed - indexed for MEDLINE]

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