292 related articles for article (PubMed ID: 23424026)
1. 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]
2. 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]
3. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Carter A; Brackley SM; Gao J; Mann JP
J Hepatol; 2019 Jan; 70(1):142-150. PubMed ID: 30315827
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.
Ashfield-Watt P; Haralambos K; Edwards R; Townsend D; Gingell R; Wa Li K; Humphries SE; McDowell I
Ann Clin Biochem; 2019 Jan; 56(1):112-117. PubMed ID: 30056760
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
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; 33(1):85-93. PubMed ID: 8617513
[TBL] [Abstract][Full Text] [Related]
10. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
Muntoni S; Wiebusch H; Jansen-Rust M; Rust S; Schulte H; Berger K; Pisciotta L; Bertolini S; Funke H; Seedorf U; Assmann G
Nutr Metab Cardiovasc Dis; 2013 Aug; 23(8):732-6. PubMed ID: 22795295
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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. PubMed ID: 9705237
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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;
JIMD Rep; 2017; 37():7-12. PubMed ID: 28220406
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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; 9(5):716-26.e1. PubMed ID: 26350820
[TBL] [Abstract][Full Text] [Related]
18. Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
Consuelo-Sánchez A; Vázquez-Frias R; Reyes-De La Rosa A; Acosta-Rodríguez-Bueno CP; Ortal-Vite MP; Cebolla JJ
Ann Hepatol; 2019; 18(4):646-650. PubMed ID: 31182375
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Stitziel NO; Fouchier SW; Sjouke B; Peloso GM; Moscoso AM; Auer PL; Goel A; Gigante B; Barnes TA; Melander O; Orho-Melander M; Duga S; Sivapalaratnam S; Nikpay M; Martinelli N; Girelli D; Jackson RD; Kooperberg C; Lange LA; Ardissino D; McPherson R; Farrall M; Watkins H; Reilly MP; Rader DJ; de Faire U; Schunkert H; Erdmann J; Samani NJ; Charnas L; Altshuler D; Gabriel S; Kastelein JJ; Defesche JC; Nederveen AJ; Kathiresan S; Hovingh GK;
Arterioscler Thromb Vasc Biol; 2013 Dec; 33(12):2909-14. PubMed ID: 24072694
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]