Abstract 498: A Novel Human APOC2 Mutation Causes Severe Hypertriglyceridemia Due to Decreased Fractional Clearance Rates of Very Low Density Lipoprotein apoB and Triglyceride and Increased Production Rates of Very Low Density Lipoprotein Triglyceride

Gissette Reyes-Soffer,Anastasiya Matveyenko,Heather Seid,Colleen Ngai,Tiffany Thomas,Stephen Holleran,Rajasekhar Ramakrishnan,Henry N. Ginsberg

Abstract 498: A Novel Human APOC2 Mutation Causes Severe Hypertriglyceridemia Due to Decreased Fractional Clearance Rates of Very Low Density Lipoprotein apoB and Triglyceride and Increased Production Rates of Very Low Density Lipoprotein Triglyceride

2019

Gissette Reyes-Soffer
Anastasiya Matveyenko
Heather Seid
Colleen Ngai
Tiffany Thomas
Stephen Holleran
Rajasekhar Ramakrishnan
Henry N. Ginsberg

Complete deficiency of apo C-II, the necessary activator of lipoprotein lipase (LpL), was first described in 1978. It is an extremely rare disorder caused by homozygosity for APOC2 gene mutations r...

Keywords:

Endocrinology
Internal medicine
Activator (genetics)
Triglyceride
gene mutation
Lipoprotein lipase
Mutation
Apolipoprotein B
Hyperlipidemia
Chemistry
Very low-density lipoprotein

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