Demuth I

Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589

Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U

Ref : J Lipid Res , :100589 , 2024

Abstract :

PubMedSearch : Bardey_2024_J.Lipid.Res__100589

PubMedID: 38969064

Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants - Kassner_2015_Eur.J.Hum.Genet_23_1259

Author(s) : Kassner U , Salewsky B , Wuhle-Demuth M , Szijarto IA , Grenkowitz T , Binner P , Marz W , Steinhagen-Thiessen E , Demuth I

Ref : Eur J Hum Genet , 23 :1259 , 2015

Abstract :

PubMedSearch : Kassner_2015_Eur.J.Hum.Genet_23_1259

PubMedID: 25585702

Gene_locus related to this paper: human-LPL

Demuth I

References (2)

1. Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589

2. Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants - Kassner_2015_Eur.J.Hum.Genet_23_1259