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Items: 19

1.

Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.

Sreekantam S, Nicklaus-Wollenteit I, Orr J, Sharif K, Vijay S, McKiernan PJ, Santra S.

Pediatr Transplant. 2016 Sep;20(6):851-4. doi: 10.1111/petr.12748. Epub 2016 Jul 9.

PMID:
27392817
2.

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.

Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, Ishida BY, Schaefer EJ, Asztalos BF, Kane JP.

J Clin Lipidol. 2015 Sep-Oct;9(5):716-26.e1. doi: 10.1016/j.jacl.2015.07.008. Epub 2015 Jul 26.

PMID:
26350820
3.

Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease.

Zimetti F, Favari E, Cagliero P, Adorni MP, Ronda N, Bonardi R, Gomaraschi M, Calabresi L, Bernini F, Guardamagna O.

Atherosclerosis. 2015 Oct;242(2):443-9. doi: 10.1016/j.atherosclerosis.2015.08.007. Epub 2015 Aug 10.

PMID:
26291497
4.

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Santillán-Hernández Y, Almanza-Miranda E, Xin WW, Goss K, Vera-Loaiza A, Gorráez-de la Mora MT, Piña-Aguilar RE.

World J Gastroenterol. 2015 Jan 21;21(3):1001-8. doi: 10.3748/wjg.v21.i3.1001.

5.

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.

Rajamohan F, Reyes AR, Ruangsiriluk W, Hoth LR, Han S, Caspers N, Tu M, Ward J, Kurumbail RG.

Protein Expr Purif. 2015 Jun;110:22-9. doi: 10.1016/j.pep.2014.12.009. Epub 2015 Jan 22.

PMID:
25620107
6.
7.

Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.

Porto AF.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:125-32. Review.

PMID:
25345094
8.

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E.

Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15. Review.

9.

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
10.

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

Reynolds T.

J Clin Pathol. 2013 Nov;66(11):918-23. doi: 10.1136/jclinpath-2012-201302. Epub 2013 Sep 2. Review.

PMID:
23999269
11.

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

Fouchier SW, Defesche JC.

Curr Opin Lipidol. 2013 Aug;24(4):332-8. doi: 10.1097/MOL.0b013e328361f6c6. Review.

PMID:
23652569
12.

Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance.

Thelwall PE, Smith FE, Leavitt MC, Canty D, Hu W, Hollingsworth KG, Thoma C, Trenell MI, Taylor R, Rutkowski JV, Blamire AM, Quinn AG.

J Hepatol. 2013 Sep;59(3):543-9. doi: 10.1016/j.jhep.2013.04.016. Epub 2013 Apr 25.

13.

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

Bernstein DL, Hülkova 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.

14.

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.

15.

Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.

Zhang B, Porto AF.

J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. Review.

PMID:
23403440
16.

Intragenic deletion as a novel type of mutation in Wolman disease.

Lee TM, Welsh M, Benhamed S, Chung WK.

Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14.

17.

Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.

Bowden KL, Bilbey NJ, Bilawchuk LM, Boadu E, Sidhu R, Ory DS, Du H, Chan T, Francis GA.

J Biol Chem. 2011 Sep 2;286(35):30624-35. doi: 10.1074/jbc.M111.274381. Epub 2011 Jul 10.

18.

Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.

Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D.

Genet Test Mol Biomarkers. 2011 Jun;15(6):395-8. doi: 10.1089/gtmb.2010.0203. Epub 2011 Feb 3.

PMID:
21291321
19.

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.

Hooper AJ, Tran HA, Formby MR, Burnett JR.

Clin Chim Acta. 2008 Dec;398(1-2):152-4. doi: 10.1016/j.cca.2008.08.007. Epub 2008 Aug 13.

PMID:
18775687

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