An 11-year-old boy with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis, who responded to lipid-lowering therapy using statin.
Ohshiro
Tadashi
T
Mabuchi
Hiroshi
H
Ohta
Takao
T
D050197:Atherosclerosis / Q000150:complications*; D002648:Child; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D006938:Hyperlipoproteinemia Type II / Q000188:drug therapy* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D011379:Prognosis; D011973:Receptors, LDL / Q000235:genetics; D017384:Sequence Deletion; D014972:Xanthogranuloma, Juvenile / Q000150:complications*
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D011973:Receptors, LDL