[HTML][HTML] Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia
G Olivecrona, E Ehrenborg, H Semb… - Journal of lipid …, 2010 - ASBMB
We investigated a family from northern Sweden in which three of four siblings have
congenital chylomicronemia. LPL activity and mass in pre-and postheparin plasma were
low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass
in adipose tissue biopsies appeared normal.[35 S] Methionine incorporation studies on
adipose tissue showed that newly synthesized LPL was normal in size and normally
glycosylated. Breast milk from the affected female subjects contained normal to elevated …
congenital chylomicronemia. LPL activity and mass in pre-and postheparin plasma were
low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass
in adipose tissue biopsies appeared normal.[35 S] Methionine incorporation studies on
adipose tissue showed that newly synthesized LPL was normal in size and normally
glycosylated. Breast milk from the affected female subjects contained normal to elevated …