0000000001300318
AUTHOR
Laura D’erasmo
Additional file 1 of Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
Additional file 1: Table 1. Patients’ genotypes. All mutations were classified according to ACMG guidelines (Chora JR, Medeiros AM, Alves AC, Bourbon M. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. Genet Med. 2018;20(6):591-598). For 3 Homozygous LDLR and 1 LDLRAP1 causing mutations were not available and the diagnosis was only on clinical base. *Double Heterozygote patient for mutations in both LDLR (c.373C>T) and PCSK9 (c.60_ 65dupGCTGCT) genes.
Additional file 2 of Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
Additional file 2: Figure 1. LDL-C burden according to lomitapide or LA treatment. A Box plot graphs represent the median values of cumulative LDL-C burden in the Lomitapide cohort (dark grey) and in the LA cohort (light grey). For the total LDL-C burden calculation see Methods. P values are adjusted for age at follow-up, untreated LDL-C values and gender. B, C Box plot graphs represent the median values of TC and LDL-C burden at baseline and on-treatment. For baseline and on-treatment TC or LDL-C burden calculation see Methods. Δ% represents TC and LDL-c percent reduction from baseline and is reported with the respective statistical significance. B shows data form Lomitapide cohort whereas…