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Items: 1 to 20 of 261

1.

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
2.

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.

3.
4.

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.

5.

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
6.

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.

Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA.

J Lipid Res. 2008 Aug;49(8):1646-57. doi: 10.1194/jlr.M700482-JLR200. Epub 2008 Apr 15.

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
8.

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
9.

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.

10.

Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.

Du H, Witte DP, Grabowski GA.

J Lipid Res. 1996 May;37(5):937-49.

11.

Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.

Sun Y, Xu YH, Du H, Quinn B, Liou B, Stanton L, Inskeep V, Ran H, Jakubowitz P, Grilliot N, Grabowski GA.

Mol Genet Metab. 2014 Jul;112(3):229-41. doi: 10.1016/j.ymgme.2014.04.006. Epub 2014 May 4.

PMID:
24837159
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.

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier MT, Belli DC, Greten H, Schmitz G.

Hum Mutat. 1998;12(1):44-51.

PMID:
9633819
14.

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.

15.

Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation.

Du H, Schiavi S, Wan N, Levine M, Witte DP, Grabowski GA.

Arterioscler Thromb Vasc Biol. 2004 Jan;24(1):147-54. Epub 2003 Nov 13.

16.

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.

17.

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
18.

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
19.

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
20.

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

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