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Results: 1 to 20 of 27

1.

Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.

Civallero G, De Mari J, Bittar C, Burin M, Giugliani R.

Gene. 2014 Apr 10;539(1):154-6. doi: 10.1016/j.gene.2014.02.003. Epub 2014 Feb 6.

PMID:
24508470
[PubMed - indexed for MEDLINE]
2.

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]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.

Yanir A, Allatif MA, Weintraub M, Stepensky P.

Mol Genet Metab. 2013 Jun;109(2):224-6. doi: 10.1016/j.ymgme.2013.03.007. Epub 2013 Mar 20.

PMID:
23583223
[PubMed - indexed for MEDLINE]
6.

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]
7.

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
[PubMed - indexed for MEDLINE]
8.

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

PMID:
23035117
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Intractable ascites as a manifestation of Wolman's disease: report of two sibs.

Kathuria R, Poddar U, Ghosh J, Yachha SK, Gnanapriya V, Pandey R, Kaur A, Phadke S, Srivastava A.

Indian J Gastroenterol. 2012 Dec;31(6):343-5. doi: 10.1007/s12664-012-0253-6. Epub 2012 Sep 25.

PMID:
23007684
[PubMed - indexed for MEDLINE]
10.

A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.

Hamilton J, Jones I, Srivastava R, Galloway P.

Clin Chim Acta. 2012 Aug 16;413(15-16):1207-10. doi: 10.1016/j.cca.2012.03.019. Epub 2012 Mar 29.

PMID:
22483793
[PubMed - indexed for MEDLINE]
Free Article
11.

Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.

Guénard F, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Pérusse L, Vohl MC.

Obesity (Silver Spring). 2012 Oct;20(10):2075-82. doi: 10.1038/oby.2012.52. Epub 2012 Mar 7.

PMID:
22395809
[PubMed - indexed for MEDLINE]
12.

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]
13.

Structural bases of Wolman disease and cholesteryl ester storage disease.

Saito S, Ohno K, Suzuki T, Sakuraba H.

Mol Genet Metab. 2012 Feb;105(2):244-8. doi: 10.1016/j.ymgme.2011.11.004. Epub 2011 Nov 20.

PMID:
22138108
[PubMed - indexed for MEDLINE]
14.

Early steps in steroidogenesis: intracellular cholesterol trafficking.

Miller WL, Bose HS.

J Lipid Res. 2011 Dec;52(12):2111-35. doi: 10.1194/jlr.R016675. Epub 2011 Oct 5. Review.

PMID:
21976778
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
21963785
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.

Decarlis S, Agostoni C, Ferrante F, Scarlino S, Riva E, Giovannini M.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S11-3. doi: 10.1007/s10545-008-1027-2. Epub 2009 Feb 15.

PMID:
19214773
[PubMed - indexed for MEDLINE]
18.

Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.

Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ.

Am J Physiol Endocrinol Metab. 2008 Dec;295(6):E1455-61. doi: 10.1152/ajpendo.90527.2008. Epub 2008 Sep 16.

PMID:
18796546
[PubMed - indexed for MEDLINE]
Free Article
19.

Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ.

Bone Marrow Transplant. 2009 Jan;43(1):21-7. doi: 10.1038/bmt.2008.273. Epub 2008 Sep 8.

PMID:
18776925
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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