(Q37417491)

20 August 2017

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title

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review (English)

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20 August 2017

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8

Robert A Hegele

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author name string

Amit R Rahalkar

1

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Fiona Giffen

2

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Bryan Har

3

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Josephine Ho

4

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Katherine M Morrison

5

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John Hill

6

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Jian Wang

7

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Tisha Joy

9

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20 August 2017

publication date

1 March 2009

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Canadian Journal of Physiology and Pharmacology

20 August 2017

published in

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volume

87

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issue

3

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page(s)

151-160

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Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase

20 August 2017

cites work

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Is LPL deficiency atherogenic?

21 January 2018

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Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases

21 January 2018

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Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.

21 January 2018

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Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.

21 January 2018

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Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II

21 January 2018

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Fibric acids: effects on lipids and lipoprotein metabolism

21 January 2018

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Molecular genetics of human lipoprotein lipase deficiency

21 January 2018

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Gene therapy with lipoprotein lipase variant S447X.

21 January 2018

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The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.

21 January 2018

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Functional variants in the lipoprotein lipase gene and risk cardiovascular disease

21 January 2018

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Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis

21 January 2018

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Chylomicronemia and the chylomicronemia syndrome: a practical approach to management

21 January 2018

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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

21 January 2018

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Lipoprotein lipase and its role in regulation of plasma lipoproteins and cardiac risk

21 January 2018

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Evidence for the chylomicron origin of lipids accumulating in diabetic eruptive xanthomas: a correlative lipid biochemical, histochemical, and electron microscopic study.

21 January 2018

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Gene therapy for lipoprotein lipase deficiency: working toward clinical application

21 January 2018

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Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation

21 January 2018

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Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation

21 January 2018

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Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation

21 January 2018

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Therapeutic response to medium-chain triglycerides and omega-3 fatty acids in a patient with the familial chylomicronemia syndrome.

21 January 2018

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The familial chylomicronemia syndrome

21 January 2018

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Omega-3 fatty acid concentrates in the treatment of moderate hypertriglyceridemia

21 January 2018

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Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids

21 January 2018

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Polygenic determinants of severe hypertriglyceridemia

21 January 2018

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Effect of gender on phenotypic expression of the S447X mutation in LPL: the Copenhagen City Heart Study

21 January 2018

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Hypertriglyceridemia: its etiology, effects and treatment

21 January 2018

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Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet

21 January 2018

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Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

21 January 2018

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21 January 2018

Identifiers

DOI

10.1139/Y09-005

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20 August 2017

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