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. 2020 May 6;8(9):1642–1650. 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

DBS: Dried blood spot nmol/punch per hour; WT: Wildtype.