218 related articles for article (PubMed ID: 19307143)
1. 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. PubMed ID: 19307143
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24122380
[TBL] [Abstract][Full Text] [Related]
3. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH; Lin AP; Zhang L; Ruan DD; Gao MZ; Chen Q; Yu HP; Liao LS; Lin XF; Fang ZT; Lin F; Lu SY; Luo JW; Zheng XL; Chen MS
Dig Dis Sci; 2024 Jun; 69(6):2109-2122. PubMed ID: 38564148
[TBL] [Abstract][Full Text] [Related]
4. 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; 33(1):85-93. PubMed ID: 8617513
[TBL] [Abstract][Full Text] [Related]
5. LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.
Arnaboldi L; Ossoli A; Giorgio E; Pisciotta L; Lucchi T; Grigore L; Pavanello C; Granata A; Pasta A; Arosio B; Azzolino D; Baragetti A; Castelnuovo S; Corsini A; Catapano AL; Calabresi L; Gomaraschi M
Atherosclerosis; 2020 Mar; 297():8-15. PubMed ID: 32058863
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22227072
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18775687
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9633819
[TBL] [Abstract][Full Text] [Related]
9. Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
Lipiński P; Ługowska A; Zakharova EY; Socha P; Tylki-Szymańska A
J Pediatr Gastroenterol Nutr; 2018 Oct; 67(4):452-457. PubMed ID: 29958253
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23403440
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 23424026
[TBL] [Abstract][Full Text] [Related]
12. Deletion of sterol O-acyltransferase 2 (SOAT2) function in mice deficient in lysosomal acid lipase (LAL) dramatically reduces esterified cholesterol sequestration in the small intestine and liver.
Lopez AM; Posey KS; Turley SD
Biochem Biophys Res Commun; 2014 Nov; 454(1):162-6. PubMed ID: 25450374
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 25620107
[TBL] [Abstract][Full Text] [Related]
14. 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; 286(35):30624-30635. PubMed ID: 21757691
[TBL] [Abstract][Full Text] [Related]
15. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL; Hülkova H; Bialer MG; Desnick RJ
J Hepatol; 2013 Jun; 58(6):1230-43. PubMed ID: 23485521
[TBL] [Abstract][Full Text] [Related]
16. Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
Sjouke B; van der Stappen JW; Groener JE; Pepping A; Wevers RA; Gouw A; Dikkeschei LD; Mijnhout S; Hovingh GK; Alleman MA
Neth J Med; 2015 Mar; 73(3):129-32. PubMed ID: 25852113
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25345094
[TBL] [Abstract][Full Text] [Related]
18. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.
Tadiboyina VT; Liu DM; Miskie BA; Wang J; Hegele RA
Lipids Health Dis; 2005 Oct; 4():26. PubMed ID: 16255772
[TBL] [Abstract][Full Text] [Related]
19. Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report.
Kuranobu N; Murakami J; Okamoto K; Nishimura R; Murayama K; Takamura A; Umeda T; Eto Y; Kanzaki S
Hepatol Res; 2016 Mar; 46(5):477-82. PubMed ID: 26385844
[TBL] [Abstract][Full Text] [Related]
20. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
Klima H; Ullrich K; Aslanidis C; Fehringer P; Lackner KJ; Schmitz G
J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]