Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.
Open Access
- 1 December 1995
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 73 (6) , 538-540
- https://doi.org/10.1136/adc.73.6.538
Abstract
A boy with a total plasma cholesterol concentration of 20.9 mmol/l which fell significantly with a low fat diet, cholestyramine and simvastatin, was shown to have two different mutations in the low density lipoprotein receptor gene, demonstrating that some patients with homozygous familial hypercholesterolaemia show a good lipid lowering response to treatment.Keywords
This publication has 6 references indexed in Scilit:
- Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.Arteriosclerosis and Thrombosis: A Journal of Vascular Biology, 1994
- Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemiaAtherosclerosis, 1993
- Molecular genetics of the LDL receptor gene in familial hypercholesterolemiaHuman Mutation, 1992
- Common low-density lipoprotein receptor mutations in the French Canadian population.Journal of Clinical Investigation, 1990
- Defective processing and binding of low‐density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subjectEuropean Journal of Biochemistry, 1989
- The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemiaMetabolism, 1985