|3.||Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial)
|5.||Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
|1.||Stefanutti, Claudia: 1 article (05/2015)|
|2.||Julius, Ulrich: 1 article (05/2015)|
|3.||Okubo, Minoru: 1 article (01/2015)|
|4.||Toromanovic, Alma: 1 article (01/2015)|
|5.||Murase, Toshio: 1 article (01/2015)|
|6.||Ebara, Tetsu: 1 article (01/2015)|
|7.||Yamashita, Shizuya: 1 article (09/2013)|
|8.||Brasen, Claus Lohman: 1 article (07/2013)|
|9.||Overgaard, Martin: 1 article (07/2013)|
|10.||Feddersen, Søren: 1 article (07/2013)|
|1.||Lipoprotein Lipase (Diacylglycerol Lipase)IBA
02/01/1985 - "[Hyperlipoproteinemia type I. Study of a familial deficiency of lipoprotein-lipase]."
07/01/2013 - "Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene."
05/01/2012 - "Hyperlipoproteinemia type I is a human condition caused by a deficiency of lipoprotein lipase. "
12/01/2001 - "Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency. "
12/01/2001 - "[Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene]."
01/01/1993 - "Metabolism of apoB-100-containing lipoproteins in familial hyperchylomicronemia."
01/01/1988 - "Apolipoprotein C-II deficiencies: in vivo models for assessing the significance of defective lipolysis on lipoprotein metabolism."
09/01/1984 - "A new case of C-II anapolipoproteinemia (complete apolipoprotein C-II deficiency) as the cause of severe hypertriglyceridemia with chylomicronemia (type I lipoprotein phenotype) is described. "
07/01/1999 - "Gene therapy is a logical therapeutic approach to monogenic lipoprotein disorders, such as homozygous familial hypercholesterolemia, familial lipoprotein lipase deficiency, familial lecithin-cholesterol acyltransferase deficiency, and abetalipoproteinemia, for which current therapies are inadequate. "
08/01/1992 - "Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency."
|3.||Lipase (Acid Lipase)FDA Link
01/01/1988 - "The biochemical and clinical aspects of these disorders, lipoprotein lipase deficiency (familial type I hyperlipoproteinaemia), hepatic triglyceride lipase deficiency and apo-CII deficiency are discussed."
10/01/1983 - "We measured the serum-stimulated lipase activity, fatty acid content, and various biochemical parameters in the breast milk of a lactating mother suffering from familial lipoprotein lipase deficiency and of healthy control subjects. "
03/01/1998 - "A mutation in the lipoprotein lipase gene associated with hyperlipoproteinemia type I in mink: studies on lipid and lipase levels in heterozygotes."
03/01/1983 - "Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency."
03/27/1984 - "Kinetic studies were performed incubating lipoprotein lipase and hepatic triacylglycerol lipase from human postheparin plasma with triacylglycerol-rich lipoproteins from two patients with apolipoprotein C-II deficiency. "
|4.||Apolipoprotein C-II (ApoC2)IBA
01/01/2015 - "Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency."
01/01/2013 - "Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene."
06/01/1988 - "Apolipoprotein C-II deficiency: detection of immunoreactive apolipoprotein C-II in the intestinal mucosa of two patients."
09/01/1984 - "Apolipoprotein C-II deficiency associated with nonfunctional mutant forms of apolipoprotein C-II."
09/01/1979 - "Our observations in this study strongly suggest that familial apolipoprotein C-II deficiency is transmitted by an autosomal recessive mode of inheritance and heterozygotes of this disorder have no abnormalities of plasma lipid and lipoproteins in spite of the reduced plasma apolipoprotein C-II."
|6.||Factor XII (Hageman Factor)IBA
05/01/2015 - "In children and adults a genetic cause may underlie HTG which can be expressed as CMs a severe clinical picture known as Familial Hyperchylomicronemia due to lipoprotein lipase (LPL) or apolipoprotein (apo) CII deficiencies. "
10/01/1989 - "A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency."
08/01/1982 - "Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency."
01/01/1982 - "The apolipoprotein C-II deficiency, and consequent hypertriglyceridaemia, may be secondary to an autoantibody directed against apolipoprotein C-II. VLDL from relatives with hypertriglyceridaemia, but without myeloma, had normal apolipoprotein content, activated LPL, and were efficient substrates for the enzyme."
12/31/1993 - "On the other hand, apolipoprotein C-II/C-III ratios in high and very low density lipoprotein, showed no significant differences at baseline compared with controls, suggesting that an apolipoprotein C-II deficiency or apolipoproteins Cs imbalance can be ruled out. "
09/01/1990 - "Diagnosis of primary hyperlipoproteinemia type I was established by exclusion of other diseases and by analysis of blood lipids. "
10/01/1983 - "Plasma lipids, lipoproteins, tissue lipoprotein lipase (LPL) and hepatic lipase (H-TGL) were studied in 7 patients with familial hyperchylomicronemia from four different families. "
12/01/1965 - "Effects of medium chain length triglyceride (MCT) on serum lipids and lipoproteins in familial hyperchylomicronemia (dietary fat-induced lipemia) and dietary carbohydrate-accentuated lipemia."
|9.||Insulin (Novolin)FDA Link
04/01/1998 - "Two siblings with familial lipoprotein-lipase deficiency and subsequent hyperchylomicronemia, widespread skin xanthomas and severe insulin-resistant diabetes mellitus came to our observation after several unsuccessful attempts at medical treatment. "
05/01/1997 - "We also report the clinical case of a young woman of normal weight, who underwent BPD for chylomicronaemia (secondary to familial lipoprotein lipase deficiency), whose M value, plasma insulin and blood glucose levels were normalized upon normalization of serum NEFA and triglyceride levels as determined by the therapeutic lipid malabsorption. "
06/01/2002 - "The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined hyperlipidemia, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs. "
12/01/2009 - "Finally, the model was able to reproduce the cholesterol and triglyceride phenotype of known genetic diseases like familial hypercholesterolemia and familial hyperchylomicronemia. "
01/01/1987 - "There are certain parallels between hypertriglyceridemic cholesterol-fed alloxan-diabetic rabbits and humans with familial lipoprotein lipase deficiency, familial apolipoprotein C-II deficiency and insulin-dependent diabetes mellitus in the ketoacidotic state. "
01/31/1992 - "A simple, low-priced chromatographic system to generate plasma lipoprotein profiles from total human plasma was tested with plasma from normolipidemic subjects and patients with heterozygous familial hypercholesterolemia, hyper-alpha-lipoproteinemia, lipoprotein lipase deficiency, familial dysbetalipoproteinemia and familial lecithin-cholesterol-acyl-transferase deficiency. "
08/01/1983 - "Parenteral nutrition with fat should be performed according to strict indications; contraindications against administration of fat are severe shock, severe coagulation disturbances and rare forms of lipid disorders (with inability to metabolize fats, such as the inborn Apolipoprotein-C-II-deficiency). "