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Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.
  1. V Gudnason,
  2. D P Muller,
  3. J K Lloyd,
  4. S E Humphries
  1. Department of Medicine, Rayne Institute, University College of London Medical School.


    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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