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83 results

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Page 1
Lipoprotein Lipase Deficiency.
Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S. Kuthiroly S, et al. Indian J Pediatr. 2021 Feb;88(2):147-153. doi: 10.1007/s12098-020-03305-z. Epub 2020 May 30. Indian J Pediatr. 2021. PMID: 32472350
OBJECTIVES: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder. ...CONCLUSIONS: Lipemic serum, chylothorax and recurrent pancrea …
OBJECTIVES: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the …
Lipid-lowering agents.
Ewang-Emukowhate M, Wierzbicki AS. Ewang-Emukowhate M, et al. J Cardiovasc Pharmacol Ther. 2013 Sep;18(5):401-11. doi: 10.1177/1074248413492906. Epub 2013 Jun 27. J Cardiovasc Pharmacol Ther. 2013. PMID: 23811423 Review.
It also discusses the human trial data on some novel therapeutic agents that are being developed including those for homozygous familial hypercholesterolemia--the antisense oligonucleotide mipomersen and the microsomal transfer protein inhibitor lomitapide. Data are presen …
It also discusses the human trial data on some novel therapeutic agents that are being developed including those for homozygous familial …
Molecular genetics of human lipoprotein lipase deficiency.
Hayden MR, Ma Y. Hayden MR, et al. Mol Cell Biochem. 1992 Aug 18;113(2):171-6. doi: 10.1007/BF00231536. Mol Cell Biochem. 1992. PMID: 1518507 Review.
Lipoprotein lipase (LPL) hydrolysis the triglyceride core of circulating chylomicrons and very-low-density lipoprotein, and modulates the levels and lipid composition of low and high density lipoproteins. ...In French Canadians who have the highest reported …
Lipoprotein lipase (LPL) hydrolysis the triglyceride core of circulating chylomicrons and very-low-density lipoprotein, …
Genetics of Hypertriglyceridemia.
Dron JS, Hegele RA. Dron JS, et al. Front Endocrinol (Lausanne). 2020 Jul 24;11:455. doi: 10.3389/fendo.2020.00455. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32793115 Free PMC article. Review.
At the genetic level, severely elevated triglyceride levels resulting from familial chylomicronemia syndrome (FCS) are caused by homozygous or biallelic loss-of-function variants in LPL, APOC2, APOA5, LMF1, and GPIHBP1 genes. In contrast, susceptibility to multifactorial c …
At the genetic level, severely elevated triglyceride levels resulting from familial chylomicronemia syndrome (FCS) are caused by homo …
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.
Steinhagen-Thiessen E, Stroes E, Soran H, Johnson C, Moulin P, Iotti G, Zibellini M, Ossenkoppele B, Dippel M, Averna MR; GENIALL Investigators. Steinhagen-Thiessen E, et al. Atherosclerosis. 2017 Jul;262:146-153. doi: 10.1016/j.atherosclerosis.2016.08.023. Epub 2016 Aug 21. Atherosclerosis. 2017. PMID: 28284702 Review.
Alipogene tiparvovec (Glybera()) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of …
Alipogene tiparvovec (Glybera()) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In …
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
Ma Y, Henderson HE, Murthy V, Roederer G, Monsalve MV, Clarke LA, Normand T, Julien P, Gagné C, Lambert M, et al. Ma Y, et al. N Engl J Med. 1991 Jun 20;324(25):1761-6. doi: 10.1056/NEJM199106203242502. N Engl J Med. 1991. PMID: 2038366 Free article.
Worldwide, the frequency of lipoprotein lipase deficiency is highest among French Canadians. ...Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of l …
Worldwide, the frequency of lipoprotein lipase deficiency is highest among French Canadians. ...Studies of site- …
Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency.
Haddley K. Haddley K. Drugs Today (Barc). 2013 Mar;49(3):161-70. doi: 10.1358/dot.2013.49.3.1937398. Drugs Today (Barc). 2013. PMID: 23527320
Alipogene tiparvovec is the first adeno-associated virus (AAV)-mediated gene therapy to be approved for the treatment of a metabolic disorder. Lipoprotein lipase (LPL) deficiency (LPLD) is a rare autosomal-recessive disorder in which gene mutations cause the …
Alipogene tiparvovec is the first adeno-associated virus (AAV)-mediated gene therapy to be approved for the treatment of a metabolic disorde …
A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
Ishimura-Oka K, Semenkovich CF, Faustinella F, Goldberg IJ, Shachter N, Smith LC, Coleman T, Hide WA, Brown WV, Oka K, et al. Ishimura-Oka K, et al. J Lipid Res. 1992 May;33(5):745-54. J Lipid Res. 1992. PMID: 1619366 Free article.
We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial hyperchylomicronemia. ...Screening for the Asp250----Asn mutation should be included in future geneti …
We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated familie …
Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden.
Mszar R, Webb GB, Kulkarni VT, Ahmad Z, Soffer D. Mszar R, et al. Med Clin North Am. 2022 Mar;106(2):325-348. doi: 10.1016/j.mcna.2021.11.009. Epub 2022 Feb 10. Med Clin North Am. 2022. PMID: 35227434 Review.
Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and familial combined hyperlipidemia to rare disorders including familial chylomicronemia syndrome and inherited hypoalphalipoproteinemia …
Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and fami …
Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia.
Paragh G, Németh Á, Harangi M, Banach M, Fülöp P. Paragh G, et al. Lipids Health Dis. 2022 Feb 10;21(1):21. doi: 10.1186/s12944-022-01631-z. Lipids Health Dis. 2022. PMID: 35144640 Free PMC article. Review.
The prevalence of hypertriglyceridemia has been increasing worldwide. Attention is drawn to the fact that the frequency of a special hypertriglyceridemia entity, named chylomicronemia syndrome, is variable among its different forms. The monogenic form, termed familial …
The prevalence of hypertriglyceridemia has been increasing worldwide. Attention is drawn to the fact that the frequency of a special …
83 results