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
References in periodicals archive ?
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical and molecular study.
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
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.
Glybera is a gene therapy for patients with the genetic disorder lipoprotein lipase deficiency (LPLD).
Severe defects in triglyceride clearance from the circulation, such as that in familial lipoprotein lipase deficiency, are rare.
Glybera has been developed as a treatment for patients with the genetic disorder lipoprotein lipase deficiency.
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.
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J Clin Invest 1991;88:1856-64.
The technology has already been successfully applied to Glybera, a gene therapy for lipoprotein lipase deficiency (LPLD), AMT said.
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).

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