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130 A novel compound heterozygous mutation of the lipoprotein lipase gene in a newborn with chylomicronemia


Book ID
117638757
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
160 KB
Volume
15
Category
Article
ISSN
0939-4753

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Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons (Brunzell, 1995). It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinica

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Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different popul