References
- Bernstein DL, Hülkova H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230–43. doi: 10.1016/j.jhep.2013.02.014
- Zhang H. Lysosomal acid lipase and lipid metabolism. Curr Opin Lipidol. 2018;29(3):218–23. doi: 10.1097/MOL.0000000000000507
- Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency – an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21–30. doi: 10.1016/j.atherosclerosis.2014.04.003
- Vinje T, Wierød L, Leren TP, et al. Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene. Mol Genet Metab. 2018;123(2):169–76. doi: 10.1016/j.ymgme.2017.11.008
- Hoffman EP, Barr ML, Giovanni MA, et al. Lysosomal Acid Lipase Deficiency. Gene Reviews. 2015 Jul (Updated 2016 Sep). Bookshelf URL: https://ncbi.nlm.nih.gov/books/
- Masi S, Chennamaneni N, Turecek F, et al. Specific substrate for the assay of lysosomal acid lipase. Clin Chem. 2018;64(4):690–6. doi: 10.1373/clinchem.2017.282251
- Lipiński P, Ługowska A, Zakharova EY, et al. Diagnostic algorithm for cholesteryl ester storage disease: clinical presentation in 19 polish patients. J Pediatr Gastroenterol Nutr. 2018;67(4):452–7. doi: 10.1097/MPG.0000000000002084
- Wilson DP, Friedman M, Marulkar S, et al. Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency. J Clin Lipidol. 2018;12(3):604–14. doi: 10.1016/j.jacl.2018.02.020
- Burton BK, Balwani M, Feillet F, et al. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. N Engl J Med. 2015;373(11):1010–20. doi: 10.1056/NEJMoa1501365
- Frampton JE. Sebelipase alfa: a review in lysosomal acid lipase deficiency. Am J Cardiovasc Drugs. 2016;16(6):461–8. doi: 10.1007/s40256-016-0203-2
- Guest JF, Ingram A, Ayoub N, et al. Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom. PLoS One. 2018;13(2):e0191945. doi: 10.1371/journal.pone.0191945