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| Title : Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia - Surendran_2012_J.Intern.Med_272_185 |
| Author(s) : Surendran RP , Visser ME , Heemelaar S , Wang J , Peter J , Defesche JC , Kuivenhoven JA , Hosseini M , Peterfy M , Kastelein JJ , Johansen CT , Hegele RA , Stroes ES , Dallinga-Thie GM |
| Ref : J Intern Med , 272 :185 , 2012 |
| Abstract : Surendran_2012_J.Intern.Med_272_185 |
| ESTHER : Surendran_2012_J.Intern.Med_272_185 |
| PubMedSearch : Surendran_2012_J.Intern.Med_272_185 |
| PubMedID: 22239554 |
| Gene_locus related to this paper: human-LPL |
| Title : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase - Holleboom_2011_Atherosclerosis_216_161 |
| Author(s) : Holleboom AG , Kuivenhoven JA , van Olden CC , Peter J , Schimmel AW , Levels JH , Valentijn RM , Vos P , Defesche JC , Kastelein JJ , Hovingh GK , Stroes ES , Hollak CE |
| Ref : Atherosclerosis , 216 :161 , 2011 |
| Abstract : Holleboom_2011_Atherosclerosis_216_161 |
| ESTHER : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| Title : Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase - Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| Author(s) : 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 |
| Ref : Arterioscler Thromb Vasc Biol , 29 :956 , 2009 |
| Abstract : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| ESTHER : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| PubMedSearch : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| PubMedID: 19304573 |
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| ESTHER : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |