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lipoprotein lipase deficiency

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lipoprotein lipase deficiency

An AR condition characterized by lack of lipoprotein lipase, resulting in massive hypertriglyceridemia of neonatal onset and recurrent episodes of pancreatitis Clinical Fatty food intolerance, eruptive xanthomas, hepatosplenomegaly that regresses with dietary control
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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References in periodicals archive
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical and molecular study.
Severe hypertriglyceridaemia as a result of familial chylomicronaemia: the Cape Town experience
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
Pro 12Ala sequence variant of the PPARG Gene is associated with postprandial hypertriglyceridemia in non-E3/E3 patients with the metabolic syndrome
30 January 2012 - Dutch Amsterdam Molecular Therapeutics (AMS:AMT), or AMT, said on Friday the European Commission's (EC) Standing Committee of the European Parliament had not taken a firm "yes" or "no" stance as regards granting marketing authorisation for Glybera (alipogene tiparvovec), a gene therapy developed by the company for patients with the genetic disorder lipoprotein lipase deficiency.
Dutch AMT says EC delays stance on Glybera, seeks further details from CHMP
Glybera is a gene therapy for patients with the genetic disorder lipoprotein lipase deficiency (LPLD).
Amsterdam Molecular Therapeuticsa[euro](tm)'Marketing Authorisation for Glybera delayed by European Commission
Severe defects in triglyceride clearance from the circulation, such as that in familial lipoprotein lipase deficiency, are rare.
Apolipoprotein A5 and hypertriglyceridemia
Glybera has been developed as a treatment for patients with the genetic disorder lipoprotein lipase deficiency.
AMT fails to secure positive CHMP recommendation for Glybera
AMT has developed Glybera as a treatment for patients with the genetic disorder lipoprotein lipase deficiency (LPLD), an orphan disease for which no treatment exists currently.
AMTa[euro](tm)s Glybera not approved by EMA after re-examination of Marketing Authorisation Application
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J Clin Invest 1991;88:1856-64.
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T
The technology has already been successfully applied to Glybera, a gene therapy for lipoprotein lipase deficiency (LPLD), AMT said.
AMT signs license agreement for additional novel gene therapy vectors from NIH; awarded US patent protection for proprietary AAV IP
29 June 2011 - Netherlands-based human gene therapy company Amsterdam Molecular Therapeutics (AMS: AMT) announced today data showing that its gene therapy Glybera significantly reduces the risk of pancreatitis in patients with Lipoprotein Lipase Deficiency (LPLD).
AMS reports data on Glybera for prevention of pancreatitis
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