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| Title : Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake - Hayne_2017_Biochemistry_56_525 |
| Author(s) : Hayne CK , Lafferty MJ , Eglinger BJ , Kane JP , Neher SB |
| Ref : Biochemistry , 56 :525 , 2017 |
| Abstract : Hayne_2017_Biochemistry_56_525 |
| ESTHER : Hayne_2017_Biochemistry_56_525 |
| PubMedSearch : Hayne_2017_Biochemistry_56_525 |
| PubMedID: 27984852 |
| Gene_locus related to this paper: human-LPL |
| 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 : Pullinger_2015_J.Clin.Lipidol_9_716 |
| ESTHER : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| Gene_locus related to this paper: human-LIPA |
| Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135 |
| Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG |
| Ref : Journal of Hepatology , 61 :1135 , 2014 |
| Abstract : Valayannopoulos_2014_J.Hepatol_61_1135 |
| ESTHER : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedID: 24993530 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease - Balwani_2013_Hepatology_58_950 |
| Author(s) : Balwani M , Breen C , Enns GM , Deegan PB , Honzik T , Jones S , Kane JP , Malinova V , Sharma R , Stock EO , Valayannopoulos V , Wraith JE , Burg J , Eckert S , Schneider E , Quinn AG |
| Ref : Hepatology , 58 :950 , 2013 |
| Abstract : Balwani_2013_Hepatology_58_950 |
| ESTHER : Balwani_2013_Hepatology_58_950 |
| PubMedSearch : Balwani_2013_Hepatology_58_950 |
| PubMedID: 23348766 |
| 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 : Durlach_2011_Diabetes.Metab_37_64 |
| ESTHER : Durlach_2011_Diabetes.Metab_37_64 |
| 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 : Peterfy_2007_Nat.Genet_39_1483 |
| ESTHER : Peterfy_2007_Nat.Genet_39_1483 |
| 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 : Ameis_1991_J.Clin.Invest_87_1165 |
| ESTHER : Ameis_1991_J.Clin.Invest_87_1165 |
| 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 : Kane_1981_N.Engl.J.Med_304_251 |
| ESTHER : Kane_1981_N.Engl.J.Med_304_251 |
| PubMedSearch : Kane_1981_N.Engl.J.Med_304_251 |
| PubMedID: 7003391 |