Why the study?
How does lipoprotein lipase deficiency and carrier status affect HDL metabolic activities compared to wild-type controls?
Population
A boy with lipoprotein lipase deficiency and his family members, divided into proband, Ser447Stop carriers…
Design
Cross-sectional
Authors
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Certain HDL activities remain intact despite LPL deficiency; hypothesis-generating and should not change practice without larger studies.
How does lipoprotein lipase deficiency and carrier status affect HDL metabolic activities compared to wild-type controls?
In a patient with LPL deficiency, markedly reduced HDL levels can still maintain certain normal enzymatic activities, potentially counteracting the deleterious effects of the deficiency.
Brites et al. (2004) studied this question.
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