Lipoprotein lipase deficiency
Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report
... primary lipoprotein lipase deficiency was seen at 7 weeks of gestation in the Lipid Clinic for management of severe hypertriglyceridemia that had worsened with ...acid deficiency, namely the ...
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The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study
... LPLD has a significant impact on patients ’ HRQoL, as demonstrated by results obtained from the EQ-5D-3L tool when assessing four of the five domains (mobility, self-care, usual activities and pain/discomfort). During ...
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A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
... Lipoprotein lipase (LPL) plays a crucial role in the regulation of lipoprotein metabolism by hydrolysing the core triglycerides of circulating chylomicrons and ...LPL deficiency of French ...
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Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities
... the lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the mutation as determined by DNA analysis was related to LPL activity in postheparin plasma, to the magnitude of ...
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Distribution of apolipoprotein(a) in the plasma from patients with lipoprotein lipase deficiency and with type III hyperlipoproteinemia No evidence for a triglyceride rich precursor of lipoprotein(a)
... low-density lipoprotein containing apolipoprotein (apo) B-100 and of the genetically polymorphic ...how lipoprotein(a) is assembled and whether there exists a precursor for ...with lipoprotein ...
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Cell therapy could be a potential way to improve lipoprotein lipase deficiency
... Lipoprotein lipase (LPL), which is the rate-limiting enzyme of lipoprotein tryglyceride metabolism, is syn- thesized and secreted by adipocytes, myocardial cells, skeletal muscle cells and kidney ...
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Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children
... As in our patient, affected individuals typically present with lipemia plasma during blood sampling. While abdominal pain is suggestive of pancreatitis in older children, presentation during infancy is non- specific and ...
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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
... The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are ...
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Amino acid substitution (Ile194 Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands Support for a multicentric origin
... of lipoprotein lipase (LPL) deficiency have been facilitated by the availability of LPL gene probes and the recent characterization of gene mutations underlying human LPL ...
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Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
... Carriers were prone to the expression of a form of familial hypertriglyceridemia characterized by increased plasma triglyceride, VLDL cholesterol and apolipoprotein B, and decreased LDL [r] ...
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State of the Development and Viability of Gene Therapy Ventures
... Presently, the most successful gene therapy venture, and the only one that has actually begun the commercialization process, is UniQure. UniQure is a Dutch company focused on gene therapy whose main product is Glybera, a ...
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Lipoprotein lipase secretion by human monocyte derived macrophages
... much lipase activity, 1 d in culture was sufficient to trigger measureable enzyme ...The lipase activity was stimulated by serum and was inhibited by preincubation with antiserum to bovine ...
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Bovine milk lipoprotein lipase transfers tocopherol to human fibroblasts during triglyceride hydrolysis in vitro
... Lipoprotein lipase appears to function as the mechanism by which dietary vitamin E (tocopherol) is transferred from chylomicrons to ...with lipoprotein lipase deficiency, more than 85% ...
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Metabolism of apolipoproteins B 48 and B 100 of triglyceride rich lipoproteins in patients with familial dysbetalipoproteinemia
... We prepared radioiodinated TG-rich lipoproteins containing apo B-48 and apo B-100 from a subject with familial lipoprotein lipase deficiency, a condition in which these lipoproteins are [r] ...
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Effect of heparin induced lipolysis on the distribution of apolipoprotein e among lipoprotein subclasses Studies with patients deficient in hepatic triglyceride lipase and lipoprotein lipase
... primary lipoprotein lipase deficiency (n = 4), apo E was confined to fractions I and ...triglyceride lipase by heparin injection in these subjects produced a shift of ...
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Lipoprotein metabolism during acute inhibition of lipoprotein lipase in the cynomolgus monkey
... of lipoprotein lipase (LPL) in the catabolism of nascent and circulating very low density lipoproteins (VLDL) and in the conversion of VLDL to low density lipoproteins (LDL), studies were performed in which ...
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Effects of heparin on the uptake of lipoprotein lipase in rat liver
... inactive lipase was produced by complete denaturation in 6 M guanidinium ...inactive lipase was gen- tly prepared by incubation in rat plasma at ...denatured lipase used in previous studies. Whether ...
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JLR-2013-Yao-1058-65.pdf
... We developed a mouse model of CIH, which mimics oxyhemoglobin desaturations in patients with OSA ( 21–23 ). Using this model, we have recently shown that CIH im- pairs chylomicron clearance in mice and inhibits a key ...
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Lipoprotein lipase increases low density lipoprotein retention by subendothelial cell matrix
... presence of LPL. Lipoprotein transport across the monolayers increased during hydrolysis of VLDL triglyceride (TG). In the presence of LPL and VLDL, VLDL transport across the monolayers increased 18% and LDL ...
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Abnormal Lipoprotein Lipase in Familial Exogenous Hypertriglyceridemia
... Both affected siblings showed heavy pre-beta lipoprotein electrophoretic bands plus chylomicrons in their fasting plasmas while ingesting a 33% carbohydrate, 30% fat diet. Incubation of their postheparin plasma ...
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