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Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia

Gudnason, V; Muller, DPR; Lloyd, JK; Humphries, SE; (1995) Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia. ARCH DIS CHILD , 73 (6) 538 - 540.

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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.

Type:Article
Title:Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia
Keywords:homozygous familial hypercholesterolaemia, compound heterozygote, LDL receptor mutation, 3-hydroxy-3-methyl-glutaryl CoA reductase inhibitors, RECEPTOR
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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