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Results: 1 to 20 of 121

1.

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.

Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C.

Pathol Res Pract. 2004;200(3):231-40.

PMID:
15200275
[PubMed - indexed for MEDLINE]
2.

Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.

Du H, Duanmu M, Witte D, Grabowski GA.

Hum Mol Genet. 1998 Sep;7(9):1347-54.

PMID:
9700186
[PubMed - indexed for MEDLINE]
Free Article
3.

Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA.

Hum Mol Genet. 2001 Aug 1;10(16):1639-48.

PMID:
11487567
[PubMed - indexed for MEDLINE]
Free Article
4.

The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.

Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA.

Am J Hum Genet. 2005 Dec;77(6):1061-74. Epub 2005 Oct 27.

PMID:
16380916
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

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]
7.

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.

Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA.

Mol Genet Metab. 1998 Jun;64(2):126-34. Review.

PMID:
9705237
[PubMed - indexed for MEDLINE]
8.

Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.

Du H, Heur M, Witte DP, Ameis D, Grabowski GA.

Hum Gene Ther. 2002 Jul 20;13(11):1361-72.

PMID:
12162818
[PubMed - indexed for MEDLINE]
9.

[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].

Tanaka A.

Nihon Rinsho. 1995 Dec;53(12):3004-8. Review. Japanese.

PMID:
8577049
[PubMed - indexed for MEDLINE]
10.

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.

Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D.

J Lipid Res. 1999 Feb;40(2):221-8.

PMID:
9925650
[PubMed - indexed for MEDLINE]
Free Article
11.

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE.

J Lipid Res. 1998 Jul;39(7):1382-8.

PMID:
9684740
[PubMed - indexed for MEDLINE]
Free Article
12.

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.

Genomics. 1996 Apr 1;33(1):85-93.

PMID:
8617513
[PubMed - indexed for MEDLINE]
13.

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

Anderson RA, Bryson GM, Parks JS.

Mol Genet Metab. 1999 Nov;68(3):333-45.

PMID:
10562460
[PubMed - indexed for MEDLINE]
14.

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.

Hůlková H, Elleder M.

Histopathology. 2012 Jun;60(7):1107-13. doi: 10.1111/j.1365-2559.2011.04164.x.

PMID:
22621222
[PubMed - indexed for MEDLINE]
15.

A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.

Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G.

J Lipid Res. 1996 Aug;37(8):1761-5.

PMID:
8864960
[PubMed - indexed for MEDLINE]
Free Article
16.

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.

PMID:
23624251
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.

Du H, Heur M, Duanmu M, Grabowski GA, Hui DY, Witte DP, Mishra J.

J Lipid Res. 2001 Apr;42(4):489-500.

PMID:
11290820
[PubMed - indexed for MEDLINE]
Free Article
18.

Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.

Tylki-Szymańska A, Rujner J, Lugowska A, Sawnor-Korszyńska D, Woźniewicz B, Czarnowska E.

Acta Paediatr Jpn. 1997 Dec;39(6):643-6.

PMID:
9447750
[PubMed - indexed for MEDLINE]
19.

Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease.

Chuang JC, Lopez AM, Posey KS, Turley SD.

Biochem Biophys Res Commun. 2014 Jan 17;443(3):1073-7. doi: 10.1016/j.bbrc.2013.12.096. Epub 2013 Dec 25.

PMID:
24370824
[PubMed - indexed for MEDLINE]
20.

Cholesteryl ester storage disease: case report during childhood.

Akçören Z, Göğüş S, Koçak N, Gürakan F, Ozen H, Yüce A.

Pediatr Dev Pathol. 1999 Nov-Dec;2(6):574-6.

PMID:
10508882
[PubMed - indexed for MEDLINE]

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