{Reference Type}: Case Reports
{Title}: Sitosterolaemia and heterozygous familial hypercholesterolaemia in a three year old girl: case report.
{Author}: Nye ER;Sutherland WH;Mortimer JG;Stringer HC;
{Journal}: N Z Med J
{Volume}: 101
{Issue}: 848
{Year}: Jun 1988 22
暂无{DOI}: 
{Abstract}: A case of a 3 1/2 year old female child is described in which symptomless cutaneous xanthomatosis led to the diagnosis of sitosterolaemia in the presence of a defect of low-density lipoprotein uptake by cultured fibroblasts. The condition responded to treatment by cholestyramine with normalisation of the blood lipid levels. Normal growth and development continued for three years of observation.