| Title : Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia - Bedoya_2024_J.Clin.Lipidol__ |
| Author(s) : Bedoya C , Thomas R , Bjarvin A , Ji W , Samara H , Tai J , Green L , Frost PH , Malloy MJ , Pullinger CR , Kane JP , Peterfy M |
| Ref : J Clin Lipidol , : , 2024 |
| Abstract : |
| PubMedSearch : Bedoya_2024_J.Clin.Lipidol__ |
| PubMedID: 39537501 |
| Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716 |
| Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP |
| Ref : J Clin Lipidol , 9 :716 , 2015 |
| Abstract : |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| Gene_locus related to this paper: human-LIPA |
| Title : Association of endothelial lipase Thr111Ile polymorphism with lipid metabolism and microvascular complications in type 2 diabetic patients - Durlach_2011_Diabetes.Metab_37_64 |
| Author(s) : Durlach V , Durlach A , Movesayan I , Socquard E , Zellner C , Clavel C , Nazeyrollas P , Malloy MJ , Pullinger CR , Kane JP , Ducasse A , Aouizerat BE |
| Ref : Diabetes Metab , 37 :64 , 2011 |
| Abstract : |
| PubMedSearch : Durlach_2011_Diabetes.Metab_37_64 |
| PubMedID: 21145773 |
| Gene_locus related to this paper: human-LIPG |
| Title : Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia - Peterfy_2007_Nat.Genet_39_1483 |
| Author(s) : Peterfy 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 |
| Ref : Nat Genet , 39 :1483 , 2007 |
| Abstract : |
| PubMedSearch : Peterfy_2007_Nat.Genet_39_1483 |
| PubMedID: 17994020 |
| Title : Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene - Ameis_1991_J.Clin.Invest_87_1165 |
| Author(s) : Ameis D , Kobayashi J , Davis RC , Ben-Zeev O , Malloy MJ , Kane JP , Lee G , Wong H , Havel RJ , Schotz MC |
| Ref : J Clinical Investigation , 87 :1165 , 1991 |
| Abstract : |
| PubMedSearch : Ameis_1991_J.Clin.Invest_87_1165 |
| PubMedID: 2010533 |
| Gene_locus related to this paper: human-LPL |
| Title : Normalization of low-density-lipoprotein levels in heterozygous familial hypercholesterolemia with a combined drug regimen - Kane_1981_N.Engl.J.Med_304_251 |
| Author(s) : Kane JP , Malloy MJ , Tun P , Phillips NR , Freedman DD , Williams ML , Rowe JS , Havel RJ |
| Ref : N Engl J Med , 304 :251 , 1981 |
| Abstract : |
| PubMedSearch : Kane_1981_N.Engl.J.Med_304_251 |
| PubMedID: 7003391 |