Title : Childhood\/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases - Poinsot_2017_J.Clin.Lipidol_11_167 |
Author(s) : Poinsot P , Collardeau Frachon S , Restier L , Serusclat A , Di Filippo M , Charriere S , Moulin P , Lachaux A , Peretti N |
Ref : J Clin Lipidol , 11 :167 , 2017 |
Abstract : |
PubMedSearch : Poinsot_2017_J.Clin.Lipidol_11_167 |
PubMedID: 28391883 |
Gene_locus related to this paper: human-LIPA |
Title : Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia - Beigneux_2017_N.Engl.J.Med_376_1647 |
Author(s) : Beigneux AP , Miyashita K , Ploug M , Blom DJ , Ai M , Linton MF , Khovidhunkit W , Dufour R , Garg A , McMahon MA , Pullinger CR , Sandoval NP , Hu X , Allan CM , Larsson M , Machida T , Murakami M , Reue K , Tontonoz P , Goldberg IJ , Moulin P , Charriere S , Fong LG , Nakajima K , Young SG |
Ref : N Engl J Med , 376 :1647 , 2017 |
Abstract : |
PubMedSearch : Beigneux_2017_N.Engl.J.Med_376_1647 |
PubMedID: 28402248 |
Title : Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter - Caussy_2016_Atherosclerosis_246_280 |
Author(s) : Caussy C , Charriere S , Meirhaeghe A , Dallongeville J , Lefai E , Rome S , Cuerq C , Euthine V , Delay M , Marmontel O , Di Filippo M , Lagarde M , Moulin P , Marcais C |
Ref : Atherosclerosis , 246 :280 , 2016 |
Abstract : |
PubMedSearch : Caussy_2016_Atherosclerosis_246_280 |
PubMedID: 26820803 |
Title : Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment - Marcais_2005_J.Clin.Invest_115_2862 |
Author(s) : Marcais C , Verges B , Charriere S , Pruneta V , Merlin M , Billon S , Perrot L , Drai J , Sassolas A , Pennacchio LA , Fruchart-Najib J , Fruchart JC , Durlach V , Moulin P |
Ref : J Clinical Investigation , 115 :2862 , 2005 |
Abstract : |
PubMedSearch : Marcais_2005_J.Clin.Invest_115_2862 |
PubMedID: 16200213 |