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Familial lipoprotein lipase deficiency
familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides
Pronunciation
/fəˈmɪljəl ˈlʌɪpəʊˌprəʊtiːn ˈlɪpeɪz dɪˈfɪʃənsi/
/fəˈmɪljəl ˈlɪpəˌproʊtin ˈlɪˌpeɪs dəˈfɪʃənsi/
Categories
autosomal recessive disease