Lipoprotein Lipase Deficiency

[1] Gagné C(1989)Primary lipoprotein – lipase deficiency: clinical investigation of a French Canadian population CMAJ 140 405-411

[2] Brun LD(2016)Editorial commentary: dietary management of familial chylomicronemia syndrome J Clin Lipidol 10 462-465

[3] Julien P(2018)Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span J Clin Lipidol. 12 908-919

[4] Moorjani S(2016)Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India J Hum Genet 61 515-522

[5] Lupien PJ(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[6] Williams LJ(2010)Pancreatitis in a child with lipemia due to novel lipoprotein lipase mutations JPGN. 50 457-459

[7] Wilson DP(2011)Lipoprotein lipase deficiency in an infant Indian Pediatr 48 805-806

[8] Williams LJ(2014)Genotype-phenotype relationships in patients with type I hyperlipoproteinemia J Clin Lipidol. 8 287-295

[9] Rhodes KS(1991)Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency J Clin Invest 88 1856-1864

[10] Karmally W(1990)Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency J Biol Chem 265 5910-5916

[1] Gagné C(1989)Primary lipoprotein – lipase deficiency: clinical investigation of a French Canadian population CMAJ 140 405-411

[2] Brun LD(2016)Editorial commentary: dietary management of familial chylomicronemia syndrome J Clin Lipidol 10 462-465

[3] Julien P(2018)Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span J Clin Lipidol. 12 908-919

[4] Moorjani S(2016)Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India J Hum Genet 61 515-522

[5] Lupien PJ(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[6] Williams LJ(2010)Pancreatitis in a child with lipemia due to novel lipoprotein lipase mutations JPGN. 50 457-459

[7] Wilson DP(2011)Lipoprotein lipase deficiency in an infant Indian Pediatr 48 805-806

[8] Williams LJ(2014)Genotype-phenotype relationships in patients with type I hyperlipoproteinemia J Clin Lipidol. 8 287-295

[9] Rhodes KS(1991)Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency J Clin Invest 88 1856-1864

[10] Karmally W(1990)Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency J Biol Chem 265 5910-5916