132 related articles for article (PubMed ID: 31739313)
1. Familial Chylomicronemia Syndrome With a Novel Homozygous LPL Mutation Identified in Three Siblings in Their 50s.
Ueda M; Burke FM; Remaley AT; Hegele RA; Rader DJ; Dunbar RL
Ann Intern Med; 2020 Apr; 172(7):500-502. PubMed ID: 31739313
[No Abstract] [Full Text] [Related]
2. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
Lam CW; Yuen YP; Cheng WF; Chan YW; Tong SF
Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
Ameis D; Kobayashi J; Davis RC; Ben-Zeev O; Malloy MJ; Kane JP; Lee G; Wong H; Havel RJ; Schotz MC
J Clin Invest; 1991 Apr; 87(4):1165-70. PubMed ID: 2010533
[TBL] [Abstract][Full Text] [Related]
5. Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency.
Colima Fausto AG; González García JR; Hernández Flores TJ; Vázquez Cárdenas NA; Solís Perales NE; Magaña Torres MT
Ann Lab Med; 2017 Jul; 37(4):355-358. PubMed ID: 28445021
[No Abstract] [Full Text] [Related]
6. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.
Gilbert B; Rouis M; Griglio S; de Lumley L; Laplaud P
Ann Genet; 2001; 44(1):25-32. PubMed ID: 11334614
[TBL] [Abstract][Full Text] [Related]
7. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
Foubert L; Bruin T; De Gennes JL; Ehrenborg E; Furioli J; Kastelein J; Benlian P; Hayden M
Hum Mutat; 1997; 10(3):179-85. PubMed ID: 9298816
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch H; Funke H; Santer R; Richter W; Assmann G
Hum Mutat; 1996; 8(4):392. PubMed ID: 8956052
[No Abstract] [Full Text] [Related]
10. A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.
Ebara T; Endo Y; Yoshiike S; Tsuji M; Taguchi S; Murase T; Okubo M
Clin Chim Acta; 2007; 386(1-2):100-4. PubMed ID: 17854791
[TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
Haubenwallner S; Hörl G; Shachter NS; Presta E; Fried SK; Höfler G; Kostner GM; Breslow JL; Zechner R
Genomics; 1993 Nov; 18(2):392-6. PubMed ID: 8288243
[TBL] [Abstract][Full Text] [Related]
12. Molecular and functional characterization of familial chylomicronemia syndrome.
Teramoto R; Tada H; Kawashiri MA; Nohara A; Nakahashi T; Konno T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Atherosclerosis; 2018 Feb; 269():272-278. PubMed ID: 29153744
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Rabacchi C; Pisciotta L; Cefalù AB; Noto D; Fresa R; Tarugi P; Averna M; Bertolini S; Calandra S
Atherosclerosis; 2015 Jul; 241(1):79-86. PubMed ID: 25966443
[TBL] [Abstract][Full Text] [Related]
14. Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations.
Vigna GB; Citroni N; Tarugi P; Fellin R
J Clin Lipidol; 2022; 16(5):591-595. PubMed ID: 35945124
[TBL] [Abstract][Full Text] [Related]
15. Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.
Wang M; Zhou Y; He X; Deng C; Liu X; Li J; Zhou L; Li Y; Zhang Y; Liu H; Li L
Clin Chim Acta; 2021 Oct; 521():264-271. PubMed ID: 34324844
[TBL] [Abstract][Full Text] [Related]
16. A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide.
Yoshida T; Gotoda T; Okubo M; Iizuka Y; Ishibashi S; Kojima T; Murakami T; Murase T; Yamada N
J Atheroscler Thromb; 2000; 7(1):45-9. PubMed ID: 11425044
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
Rabacchi C; D'Addato S; Palmisano S; Lucchi T; Bertolini S; Calandra S; Tarugi P
J Clin Lipidol; 2016; 10(4):915-921.e4. PubMed ID: 27578123
[TBL] [Abstract][Full Text] [Related]
18. Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
Henderson HE; Bijvoet SM; Mannens MA; Bruin T; Erkelens DW; Hayden MR; Kastelein JJ
Am J Med Genet; 1998 Jul; 78(4):313-6. PubMed ID: 9714430
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec.
Normand T; Bergeron J; Fernandez-Margallo T; Bharucha A; Ven Murthy MR; Julien P; Gagné C; Dionne C; De Braekeleer M; Ma R
Hum Genet; 1992 Aug; 89(6):671-5. PubMed ID: 1511985
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]