title: [Clinical signs of homozygous familial hypercholesterolemia].
abstract: During 15 years 12 patients with clinically verified diagnosis homozygous familial hypercholesterolemia were treated in the A.L. Myasnikov Institute of Clinical Cardiology. The paper presents description of main phenotypic manifestations of the condition (xanthomas, levels of lipids, the state of cardiovascular system) based on results of investigation of these patients.
authors.forename: P P
authors.initials: PP
authors.lastname: Malyshev
authors.forename: O A
authors.initials: OA
authors.lastname: Shaklunova
authors.forename: V V
authors.initials: VV
authors.lastname: Kukharchuk
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005141:Eyelid Diseases / Q000150:complications; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications / Q000235:genetics; D008055:Lipids / Q000097:blood; D008297:Male; D012871:Skin Diseases / Q000150:complications; D014973:Xanthomatosis / Q000150:complications
chemical_list: D008055:Lipids