- M Male, F Female, Y Year, M Month, D Day, GR Growth retardation, Hb Hemoglobin, Plt Platelet, Lp(a) Lipoprotein a, ASD Atrial septal defect, AR Aortic regurgitation, PDA Patent foramen ovale, SGA Small for gestational age infant
- Patients 8 and 9 were brother and sister, respectively. The reference intervals for phytosterol levels were as follows: sitosterol (μmol/L): 0-2Y: 0.01–15.49; 3-6Y: 0.01–15.44; 7-15Y: 0.01–10.00; and campesterol (μmol/L): 0-2Y: 0.01–15.67; 3-6Y: 0.01–17.96; and 7-15Y: 0.01–10.39. All patients with one variant in our table were homozygous