Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia) A STUDY OF ITS BIOCHEMICAL, GENETIC, AND CLINICAL PRESENTATION IN CHILDHOOD
AUTOR(ES)
Kwiterovich, Peter O.
RESUMO
Primary hyperbetalipoproteinemia (type II hyperlipoproteinemia) is a common disorder associated with premature vascular disease. It is frequently due to genetic abnormalities, some of which are expressed in childhood. We have examined the manner in which that form of hyperbetalipoproteinemia known as familial hypercholesterolemia may be expressed in 236 children aged 1-19 born of 90 matings in which one parent had hyperbetalipoproteinemia of this variety and one parent did not.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=302610Documentos Relacionados
- Genetic, biochemical, and crystallographic characterization of Fhit–substrate complexes as the active signaling form of Fhit
- Inorganic Polyphosphate in Vibrio cholerae: Genetic, Biochemical, and Physiologic Features
- Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
- Interleukin-17A in Egyptian leprosy patients: a clinical, genetic, and biochemical study
- Imidazole acetol phosphate aminotransferase in Zymomonas mobilis: molecular genetic, biochemical, and evolutionary analyses.