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Items: 1 to 20 of 29

1.

Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.

Beigneux AP, Miyashita K, Ploug M, Blom DJ, Ai M, Linton MF, Khovidhunkit W, Dufour R, Garg A, McMahon MA, Pullinger CR, Sandoval NP, Hu X, Allan CM, Larsson M, Machida T, Murakami M, Reue K, Tontonoz P, Goldberg IJ, Moulin P, Charrière S, Fong LG, Nakajima K, Young SG.

N Engl J Med. 2017 Apr 27;376(17):1647-1658. doi: 10.1056/NEJMoa1611930. Epub 2017 Apr 5.

PMID:
28402248
2.

Diagnostic algorithm for familial chylomicronemia syndrome.

Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M.

Atheroscler Suppl. 2017 Jan;23:1-7. doi: 10.1016/j.atherosclerosissup.2016.10.002. Epub 2016 Dec 18.

PMID:
27998715
3.

Novel therapeutics in hypertriglyceridemia.

Gryn SE, Hegele RA.

Curr Opin Lipidol. 2015 Dec;26(6):484-91. doi: 10.1097/MOL.0000000000000231. Review.

PMID:
26780002
4.

Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome.

Meyers CD, Tremblay K, Amer A, Chen J, Jiang L, Gaudet D.

Lipids Health Dis. 2015 Feb 18;14:8. doi: 10.1186/s12944-015-0006-5.

PMID:
25889044
5.

Chylomicronaemia--current diagnosis and future therapies.

Brahm AJ, Hegele RA.

Nat Rev Endocrinol. 2015 Jun;11(6):352-62. doi: 10.1038/nrendo.2015.26. Epub 2015 Mar 3. Review.

PMID:
25732519
6.

Targeting APOC3 in the familial chylomicronemia syndrome.

Gaudet D, Brisson D, Tremblay K, Alexander VJ, Singleton W, Hughes SG, Geary RS, Baker BF, Graham MJ, Crooke RM, Witztum JL.

N Engl J Med. 2014 Dec 4;371(23):2200-6. doi: 10.1056/NEJMoa1400284.

PMID:
25470695
7.

Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.

Okubo M, Toromanovic A, Ebara T, Murase T.

Clin Chim Acta. 2015 Jan 1;438:148-53. doi: 10.1016/j.cca.2014.08.022. Epub 2014 Aug 27.

PMID:
25172036
8.

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

Hegele RA, Ginsberg HN, Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O; European Atherosclerosis Society Consensus Panel.

Lancet Diabetes Endocrinol. 2014 Aug;2(8):655-66. doi: 10.1016/S2213-8587(13)70191-8. Epub 2013 Dec 23. Review.

PMID:
24731657
9.

Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide.

Sacks FM, Stanesa M, Hegele RA.

JAMA Intern Med. 2014 Mar;174(3):443-7. doi: 10.1001/jamainternmed.2013.13309.

PMID:
24366202
10.

Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.

Martín-Campos JM, Julve J, Roig R, Martínez S, Errico TL, Martínez-Couselo S, Escolà-Gil JC, Méndez-González J, Blanco-Vaca F.

Clin Chim Acta. 2014 Feb 15;429:61-8. doi: 10.1016/j.cca.2013.11.025. Epub 2013 Dec 1.

PMID:
24291057
11.

Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial.

Gaudet D, Méthot J, Déry S, Brisson D, Essiembre C, Tremblay G, Tremblay K, de Wal J, Twisk J, van den Bulk N, Sier-Ferreira V, van Deventer S.

Gene Ther. 2013 Apr;20(4):361-9. doi: 10.1038/gt.2012.43. Epub 2012 Jun 21.

PMID:
22717743
12.

Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

Gin P, Goulbourne CN, Adeyo O, Beigneux AP, Davies BS, Tat S, Voss CV, Bensadoun A, Fong LG, Young SG.

Hum Mol Genet. 2012 Jul 1;21(13):2961-72. doi: 10.1093/hmg/dds127. Epub 2012 Apr 6.

PMID:
22493000
13.

Diagnosis and treatment of severe hypertriglyceridemia.

Viljoen A, Wierzbicki AS.

Expert Rev Cardiovasc Ther. 2012 Apr;10(4):505-14. doi: 10.1586/erc.12.21. Review.

PMID:
22458582
14.

Diagnosis and management of type I and type V hyperlipoproteinemia.

Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N; Research Committee for Primary Hyperlipidemia, Research on Measures against Intractable Diseases by the Ministry of Health, Labour and Welfare in Japan.

J Atheroscler Thromb. 2012;19(1):1-12. Epub 2011 Dec 1.

PMID:
22129523
15.

Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.

Péterfy M.

Biochim Biophys Acta. 2012 May;1821(5):790-4. doi: 10.1016/j.bbalip.2011.10.006. Epub 2011 Oct 12. Review.

PMID:
22063272
16.

Apolipoprotein A-V; a potent triglyceride reducer.

Nilsson SK, Heeren J, Olivecrona G, Merkel M.

Atherosclerosis. 2011 Nov;219(1):15-21. doi: 10.1016/j.atherosclerosis.2011.07.019. Epub 2011 Jul 23. Review.

PMID:
21831376
17.

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG.

Arterioscler Thromb Vasc Biol. 2009 Jun;29(6):956-62. doi: 10.1161/ATVBAHA.109.186577. Epub 2009 Mar 19.

PMID:
19304573
18.

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.

Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH.

Nat Genet. 2007 Dec;39(12):1483-7. Epub 2007 Nov 11.

PMID:
17994020
19.

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.

Beigneux AP, Davies BS, Gin P, Weinstein MM, Farber E, Qiao X, Peale F, Bunting S, Walzem RL, Wong JS, Blaner WS, Ding ZM, Melford K, Wongsiriroj N, Shu X, de Sauvage F, Ryan RO, Fong LG, Bensadoun A, Young SG.

Cell Metab. 2007 Apr;5(4):279-91.

PMID:
17403372
20.

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

Calandra S, Priore Oliva C, Tarugi P, Bertolini S.

Curr Opin Lipidol. 2006 Apr;17(2):122-7. Review.

PMID:
16531747

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