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Lipase deficiency combined

Known as: LPL AND HL DEFICIENCY, Combined Lipase Deficiency, Lipase Deficiency, Combined 
A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated… 
National Institutes of Health

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Broader (2)

LIPOPROTEIN LIPASELipid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
LPL Ser447Ter and Asn291Ser variants in Romanians: associations with preeclampsia – implications on lipid profile and prognosis
Objectives: To investigate the role of LPL-Ser447Ter and Asn291Ser polymorphisms in the predisposition to different types of… 
2007
2007
Haplotypes in the lipoprotein lipase gene influence fasting insulin and discovery of a new risk haplotype.
CONTEXT Prior studies of Mexican Americans described association of lipoprotein lipase (LPL) gene haplotypes with insulin… 
2005
2005
Cholesteryl ester transfer protein TaqI B and lipoprotein lipase Ser447Ter gene polymorphisms are not associated with ischaemic stroke in Greek patients
2001
2001
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion.
Combined lipase deficiency (cld) is a recessively inherited disorder in mice associated with a deficiency of LPL and hepatic… 
2000
2000
Adrenal and liver in normal and cld/cld mice synthesize and secrete hepatic lipase, but the lipase is inactive in cld/cld mice.
Combined lipase deficiency (cld) is a recessive mutation in mice that causes a severe lack of lipoprotein lipase (LPL) and… 
2000
2000
[DNA polymorphism of Pvu II site in the lipoprotein lipase gene in patients with type 2 diabetes mellitus].
OBJECTIVE To study the relationship between the lipoprotein lipase(LPL) gene and type 2 diabetes mellitus (DM) and its lipid… 
1991
1991
Molecular cloning of mouse hepatic triacylglycerol lipase: gene expression in combined lipase-deficient (cld/cld) mice.
1990
1990
Synthesis of inactive nonsecretable high mannose-type lipoprotein lipase by cultured brown adipocytes of combined lipase-deficient cld/cld mice.
1986
1986
Effect of the combined lipase deficiency mutation (cld/cld) on ultrastructure of tissues in mice. Diaphragm, heart, brown adipose tissue, lung, and liver.
Lipoprotein lipase and hepatic lipase activities are very low in tissues of mice born with genetic combined lipase deficiency… 
1975
1975
"Lipolipin": a glycoprotein inhibitor of postheparin plasma lipoprotein lipase.
It has been established that the uptake of circulating blood triglyceride fatty acids by extrahepatic tissues is mediated through… 
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