| Title : Lysosomal acid lipase A and the hypercholesterolaemic phenotype - Fouchier_2013_Curr.Opin.Lipidol_24_332 |
| Author(s) : Fouchier SW , Defesche JC |
| Ref : Curr Opin Lipidol , 24 :332 , 2013 |
| Abstract : |
| PubMedSearch : Fouchier_2013_Curr.Opin.Lipidol_24_332 |
| PubMedID: 23652569 |
| Title : Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia - Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| Author(s) : Stitziel NO , Fouchier SW , Sjouke B , Peloso GM , Moscoso AM , Auer PL , Goel A , Gigante B , Barnes TA , Melander O , Orho-Melander M , Duga S , Sivapalaratnam S , Nikpay M , Martinelli N , Girelli D , Jackson RD , Kooperberg C , Lange LA , Ardissino D , McPherson R , Farrall M , Watkins H , Reilly MP , Rader DJ , de Faire U , Schunkert H , Erdmann J , Samani NJ , Charnas L , Altshuler D , Gabriel S , Kastelein JJ , Defesche JC , Nederveen AJ , Kathiresan S , Hovingh GK |
| Ref : Arterioscler Thromb Vasc Biol , 33 :2909 , 2013 |
| Abstract : |
| PubMedSearch : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| PubMedID: 24072694 |
| 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 : |
| 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 : |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| 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 : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |