Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 239

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
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
16380916
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
4.

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]
5.

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.

PMID:
18413899
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
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.

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
9.

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]
10.

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]
Free PMC 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.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
8725147
[PubMed - indexed for MEDLINE]
Free Article
14.

Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.

Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ.

Hum Gene Ther. 2001 Feb 10;12(3):279-89.

PMID:
11177564
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
14615393
[PubMed - indexed for MEDLINE]
Free Article
17.

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
18.

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]
19.

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
[PubMed - indexed for MEDLINE]
20.

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]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk