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Items: 1 to 20 of 126

1.

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
2.

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
3.

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
4.

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.

5.

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
6.

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
7.
8.

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
9.

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.

10.
11.

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
12.

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
13.

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.

14.

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
15.

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.

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.

17.

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S.

Mol Genet Metab. 2009 Jun;97(2):143-8. doi: 10.1016/j.ymgme.2009.02.007. Epub 2009 Feb 26.

PMID:
19307143
18.

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
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
20.

Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

Ruiz-Andrés C, Sellés E, Arias A, Gort L; Spanish LAL Deficiency Working Group.

JIMD Rep. 2017;37:7-12. doi: 10.1007/8904_2017_6. Epub 2017 Feb 21.

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