205 related articles for article (PubMed ID: 29958253)
21. 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]
22. 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]
23. Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.
Draijer LG; Bosch AM; Wiegman A; Sjouke B; Benninga MA; Koot BGP
Atherosclerosis; 2018 Nov; 278():174-179. PubMed ID: 30286343
[TBL] [Abstract][Full Text] [Related]
24. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease.
Balwani M; Breen C; Enns GM; Deegan PB; Honzík T; Jones S; Kane JP; Malinova V; Sharma R; Stock EO; Valayannopoulos V; Wraith JE; Burg J; Eckert S; Schneider E; Quinn AG
Hepatology; 2013 Sep; 58(3):950-7. PubMed ID: 23348766
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.
Maciejko JJ
Am J Cardiovasc Drugs; 2017 Jun; 17(3):217-231. PubMed ID: 28197978
[TBL] [Abstract][Full Text] [Related]
28. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.
Reynolds T
J Clin Pathol; 2013 Nov; 66(11):918-23. PubMed ID: 23999269
[TBL] [Abstract][Full Text] [Related]
29. [Cholesterol ester storage disease: a rare disease or a rare diagnosis?].
Weiler C; Freudenberg F; Müller-Höcker J
Pathologe; 2009 Feb; 30(1):65-9. PubMed ID: 19156417
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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; 443(3):1073-7. PubMed ID: 24370824
[TBL] [Abstract][Full Text] [Related]
32. Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.
Tylki-Szymańska A; Rujner J; Lugowska A; Sawnor-Korszyńska D; Woźniewicz B; Czarnowska E
Acta Paediatr Jpn; 1997 Dec; 39(6):643-6. PubMed ID: 9447750
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Large-scale screening of lipase acid deficiency in at risk population.
Tebani A; Sudrié-Arnaud B; Boudabous H; Brassier A; Anty R; Snanoudj S; Abergel A; Abi Warde MT; Bardou-Jacquet E; Belbouab R; Blanchet E; Borderon C; Bronowicki JP; Cariou B; Carette C; Dabbas M; Dranguet H; de Ledinghen V; Ferrières J; Guillaume M; Krempf M; Lacaille F; Larrey D; Leroy V; Musikas M; Nguyen-Khac E; Ouzan D; Perarnau JM; Pilon C; Ratzlu V; Thebaut A; Thevenot T; Tragin I; Triolo V; Vergès B; Vergnaud S; Bekri S
Clin Chim Acta; 2021 Aug; 519():64-69. PubMed ID: 33857477
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease.
Dairaku T; Iwamoto T; Nishimura M; Endo M; Ohashi T; Eto Y
Mol Genet Metab; 2014 Feb; 111(2):193-6. PubMed ID: 24295952
[TBL] [Abstract][Full Text] [Related]
37. 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. PubMed ID: 22138108
[TBL] [Abstract][Full Text] [Related]
38. Lysosomal acid lipase A and the hypercholesterolaemic phenotype.
Fouchier SW; Defesche JC
Curr Opin Lipidol; 2013 Aug; 24(4):332-8. PubMed ID: 23652569
[TBL] [Abstract][Full Text] [Related]
39. A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.
Shen JJ; Davis JL; Hong X; Laningham FH; Gelb MH; Kim GE
J Pediatr Gastroenterol Nutr; 2020 Dec; 71(6):726-730. PubMed ID: 32740531
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
