331 related articles for article (PubMed ID: 24291057)
1. Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Martín-Campos JM; Julve J; Roig R; Martínez S; Errico TL; Martínez-Couselo S; Escolà-Gil JC; Méndez-González J; Blanco-Vaca F
Clin Chim Acta; 2014 Feb; 429():61-8. PubMed ID: 24291057
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
Chokshi N; Blumenschein SD; Ahmad Z; Garg A
J Clin Lipidol; 2014; 8(3):287-95. PubMed ID: 24793350
[TBL] [Abstract][Full Text] [Related]
3. Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Buonuomo PS; Rabacchi C; Macchiaiolo M; Trenti C; Fasano T; Tarugi P; Bartuli A; Bertolini S; Calandra S
J Clin Lipidol; 2017; 11(6):1329-1337.e3. PubMed ID: 28951076
[TBL] [Abstract][Full Text] [Related]
4. Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.
Okubo M; Toromanovic A; Ebara T; Murase T
Clin Chim Acta; 2015 Jan; 438():148-53. PubMed ID: 25172036
[TBL] [Abstract][Full Text] [Related]
5. Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.
Xie SL; Chen TZ; Huang XL; Chen C; Jin R; Huang ZM; Zhou MT
PLoS One; 2015; 10(6):e0129488. PubMed ID: 26079787
[TBL] [Abstract][Full Text] [Related]
6. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP; Visser ME; Heemelaar S; Wang J; Peter J; Defesche JC; Kuivenhoven JA; Hosseini M; Péterfy M; Kastelein JJ; Johansen CT; Hegele RA; Stroes ES; Dallinga-Thie GM
J Intern Med; 2012 Aug; 272(2):185-96. PubMed ID: 22239554
[TBL] [Abstract][Full Text] [Related]
7. Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.
Khovidhunkit W; Charoen S; Kiateprungvej A; Chartyingcharoen P; Muanpetch S; Plengpanich W
J Clin Lipidol; 2016; 10(3):505-511.e1. PubMed ID: 27206937
[TBL] [Abstract][Full Text] [Related]
8. Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Kassner U; Salewsky B; Wühle-Demuth M; Szijarto IA; Grenkowitz T; Binner P; März W; Steinhagen-Thiessen E; Demuth I
Eur J Hum Genet; 2015 Sep; 23(9):1259-61. PubMed ID: 25585702
[TBL] [Abstract][Full Text] [Related]
9. Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA; Berberich AJ; Ban MR; Wang J; Digenio A; Alexander VJ; D'Erasmo L; Arca M; Jones A; Bruckert E; Stroes ES; Bergeron J; Civeira F; Witztum JL; Gaudet D
J Clin Lipidol; 2018; 12(4):920-927.e4. PubMed ID: 29748148
[TBL] [Abstract][Full Text] [Related]
10. APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
Calandra S; Priore Oliva C; Tarugi P; Bertolini S
Curr Opin Lipidol; 2006 Apr; 17(2):122-7. PubMed ID: 16531747
[TBL] [Abstract][Full Text] [Related]
11. GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
Charrière S; Peretti N; Bernard S; Di Filippo M; Sassolas A; Merlin M; Delay M; Debard C; Lefai E; Lachaux A; Moulin P; Marçais C
J Clin Endocrinol Metab; 2011 Oct; 96(10):E1675-9. PubMed ID: 21816778
[TBL] [Abstract][Full Text] [Related]
12. Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
Hu Y; Chen JM; Zuo H; Pu N; Zhang G; Duan Y; Li G; Tong Z; Li W; Li B; Yang Q
Lipids Health Dis; 2024 Apr; 23(1):92. PubMed ID: 38561841
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.
Caddeo A; Mancina RM; Pirazzi C; Russo C; Sasidharan K; Sandstedt J; Maurotti S; Montalcini T; Pujia A; Leren TP; Romeo S; Pingitore P
Nutr Metab Cardiovasc Dis; 2018 Feb; 28(2):158-164. PubMed ID: 29288010
[TBL] [Abstract][Full Text] [Related]
14. Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ; Rioja J; Ibarretxe D; Camacho A; Díaz-Díaz JL; Mangas A; Carbayo-Herencia JA; Ruiz-Ocaña P; Lamíquiz-Moneo I; Mosquera D; Sáenz P; Masana L; Muñiz-Grijalvo O; Pérez-Calahorra S; Valdivielso P;
J Clin Lipidol; 2018; 12(6):1482-1492.e3. PubMed ID: 30150141
[TBL] [Abstract][Full Text] [Related]
15. Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
Hooper AJ; Kurtkoti J; Hamilton-Craig I; Burnett JR
Ann Clin Biochem; 2014 Jul; 51(Pt 4):485-9. PubMed ID: 24591733
[TBL] [Abstract][Full Text] [Related]
16. Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.
Lamiquiz-Moneo I; Blanco-Torrecilla C; Bea AM; Mateo-Gallego R; Pérez-Calahorra S; Baila-Rueda L; Cenarro A; Civeira F; de Castro-Orós I
Lipids Health Dis; 2016 Apr; 15():82. PubMed ID: 27108409
[TBL] [Abstract][Full Text] [Related]
17. A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
Buonuomo PS; Bartuli A; Rabacchi C; Bertolini S; Calandra S
J Clin Lipidol; 2015; 9(2):265-70. PubMed ID: 25911085
[TBL] [Abstract][Full Text] [Related]
18. Severe hypertriglyceridemia is primarily polygenic.
Dron JS; Wang J; Cao H; McIntyre AD; Iacocca MA; Menard JR; Movsesyan I; Malloy MJ; Pullinger CR; Kane JP; Hegele RA
J Clin Lipidol; 2019; 13(1):80-88. PubMed ID: 30466821
[TBL] [Abstract][Full Text] [Related]
19. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Zhang G; Hu Y; Yang Q; Pu N; Li G; Zhang J; Tong Z; Masson E; Cooper DN; Chen JM; Li W
Lipids Health Dis; 2023 Aug; 22(1):128. PubMed ID: 37568214
[TBL] [Abstract][Full Text] [Related]
20. Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia.
De Castro-Orós I; Cenarro A; Tejedor MT; Baila-Rueda L; Mateo-Gallego R; Lamiquiz-Moneo I; Pocoví M; Civeira F
Circ Cardiovasc Genet; 2014 Dec; 7(6):814-21. PubMed ID: 25176936
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]