Article
Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations reveals a gender bias.
Annals of clinical biochemistry - 1 Mar 2014
Murase Toshio, Ebara Tetsu, Okubo Minoru
Abstract excerpt
BACKGROUND: Familial lipoprotein lipase (LPL) deficiency is a very rare autosomal recessive disorder characterized by marked elevation of plasma triglyceride concentrations. Since 1989, a variety of mutations have been reported in affected patients. Studies on subjects with heterozygous LPL deficiency, on the other hand, have been limited. METHODS: We examined post-heparin plasma LPL activity in 15 subjects with...
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