272 related articles for article (PubMed ID: 36555187)
1. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R; Takada S
Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555187
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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. PubMed ID: 23624251
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Recent insights into lysosomal acid lipase deficiency.
Korbelius M; Kuentzel KB; Bradić I; Vujić N; Kratky D
Trends Mol Med; 2023 Jun; 29(6):425-438. PubMed ID: 37028992
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.
Zhang H
Curr Opin Lipidol; 2018 Jun; 29(3):218-223. PubMed ID: 29547398
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Lysosomal acid lipase deficiency: Expanding differential diagnosis.
Valayannopoulos V; Mengel E; Brassier A; Grabowski G
Mol Genet Metab; 2017; 120(1-2):62-66. PubMed ID: 27876313
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
