Copyright
©The Author(s) 2020.
World J Clin Cases. May 6, 2020; 8(9): 1642-1650
Published online May 6, 2020. doi: 10.12998/wjcc.v8.i9.1642
Published online May 6, 2020. doi: 10.12998/wjcc.v8.i9.1642
Table 2 Lysosomal acid lipase activity and LIPA variants in family members of two patients with cholesteryl ester storage disease
| Age | Gender | DBS | LIPA variant | Genotype |
| 5 | Male | 1.03 | c.482del, p.Asn161Ilefs*19 | Heterozygote |
| 7 | Male | 0.34 | c.894G>A, p.Gln298Gln | Heterozygote |
| 9 | Female | 1.33 | WT | Normal |
| 31 | Male | 0.22 | c.894G>A, p.Gln298Gln | Heterozygote |
| 34 34 | Male Male | 0.37 0.51 | c.482del, p.Asn161Ilefs*19 c.482del, p.Asn161Ilefs*19 | Heterozygote Heterozygote |
- Citation: Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL. Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature. World J Clin Cases 2020; 8(9): 1642-1650
- URL: https://www.wjgnet.com/2307-8960/full/v8/i9/1642.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i9.1642