205 related articles for article (PubMed ID: 29958253)
1. 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]
2. A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.
Gürbüz BB; Güney İ; Bulut FD; Dilek O
Turk J Pediatr; 2020; 62(5):831-835. PubMed ID: 33108087
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L; Tozzi G; Travaglini L; Taurisano R; Lucchi T; Indolfi G; Papadia F; Di Rocco M; D'Antiga L; Crock P; Vora K; Nightingale S; Michelakakis H; Garoufi A; Lykopoulou L; Bertolini S; Calandra S
Atherosclerosis; 2017 Oct; 265():124-132. PubMed ID: 28881270
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
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. PubMed ID: 23424026
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Lysosomal acid lipase deficiency in pediatric patients: a scoping review.
Witeck CDR; Schmitz AC; de Oliveira JMD; Porporatti AL; De Luca Canto G; Pires MMS
J Pediatr (Rio J); 2022; 98(1):4-14. PubMed ID: 33964214
[TBL] [Abstract][Full Text] [Related]
12. Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.
Tylki-Szymańska A; Jurecka A
Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2014; 35(1):99-106. PubMed ID: 24798600
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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; 539(1):154-6. PubMed ID: 24508470
[TBL] [Abstract][Full Text] [Related]
16. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
Santillán-Hernández Y; Almanza-Miranda E; Xin WW; Goss K; Vera-Loaiza A; Gorráez-de la Mora MT; Piña-Aguilar RE
World J Gastroenterol; 2015 Jan; 21(3):1001-8. PubMed ID: 25624737
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.
Decarlis S; Agostoni C; Ferrante F; Scarlino S; Riva E; Giovannini M
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S11-3. PubMed ID: 19214773
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]