| 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 : 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 : Purification of canine post-heparin hepatic lipase - Frost_1982_Biochim.Biophys.Acta_712_71 |
| Author(s) : Frost PH , Shore VG , Havel RJ |
| Ref : Biochimica & Biophysica Acta , 712 :71 , 1982 |
| Abstract : |
| PubMedSearch : Frost_1982_Biochim.Biophys.Acta_712_71 |
| PubMedID: 7115748 |