Article
Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.
Archives of disease in childhood - 1 Dec 1995
Gudnason V, Muller D P, Lloyd J K, Humphries S E
Abstract excerpt
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.
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