123 related articles for article (PubMed ID: 11730817)
1. No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene.
Ebara T; Okubo M; Horinishi A; Adachi M; Murase T; Hirano T
Atherosclerosis; 2001 Dec; 159(2):375-9. PubMed ID: 11730817
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.
Kawashiri MA; Higashikata T; Mizuno M; Takata M; Katsuda S; Miwa K; Nozue T; Nohara A; Inazu A; Kobayashi J; Koizumi J; Mabuchi H
J Clin Endocrinol Metab; 2005 Dec; 90(12):6541-4. PubMed ID: 16174715
[TBL] [Abstract][Full Text] [Related]
4. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
Benlian P; De Gennes JL; Foubert L; Zhang H; Gagné SE; Hayden M
N Engl J Med; 1996 Sep; 335(12):848-54. PubMed ID: 8778602
[TBL] [Abstract][Full Text] [Related]
5. Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
Saika Y; Sakai N; Takahashi M; Maruyama T; Kihara S; Ouchi N; Ishigami M; Hiraoka H; Nakamura T; Yamashita S; Matsuzawa Y
Eur J Clin Invest; 2003 Mar; 33(3):216-22. PubMed ID: 12641539
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Chylomicronemia caused by lipoprotein lipase gene mutation related to a hyper-response of insulin secretion to glucose.
Tanaka S; Tanabe Y; Tamura H; Ishii S; Shuto Y; Kamegai J; Sugihara H; Kobayashi M; Wakabayashi I; Murano T; Shirai K; Oikawa S
Intern Med; 2002 Apr; 41(4):300-3. PubMed ID: 11993791
[TBL] [Abstract][Full Text] [Related]
8. Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
Overgaard M; Brasen CL; Svaneby D; Feddersen S; Nybo M
Ann Clin Biochem; 2013 Jul; 50(Pt 4):374-9. PubMed ID: 23761384
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
Kobayashi J; Sasaki N; Tashiro J; Inadera H; Saito Y; Yoshida S
Biochem Biophys Res Commun; 1993 Mar; 191(3):1046-54. PubMed ID: 8096693
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.
Al-Shali K; Wang J; Fellows F; Huff MW; Wolfe BM; Hegele RA
Clin Biochem; 2002 Mar; 35(2):125-30. PubMed ID: 11983347
[TBL] [Abstract][Full Text] [Related]
14. Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.
Evans D; Wendt D; Ahle S; Guerra A; Beisiegel U
Hum Mutat; 1998; 12(3):217. PubMed ID: 10660334
[TBL] [Abstract][Full Text] [Related]
15. Trp64----nonsense mutation in the lipoprotein lipase gene.
Sprecher DL; Kobayashi J; Rymaszewski M; Goldberg IJ; Harris BV; Bellet PS; Ameis D; Yunker RL; Black DM; Stein EA
J Lipid Res; 1992 Jun; 33(6):859-66. PubMed ID: 1512512
[TBL] [Abstract][Full Text] [Related]
16. A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.
Kobayashi J; Nishida T; Ameis D; Stahnke G; Schotz MC; Hashimoto H; Fukamachi I; Shirai K; Saito Y; Yoshida S
Biochem Biophys Res Commun; 1992 Jan; 182(1):70-7. PubMed ID: 1731801
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.
Takagi A; Ikeda Y; Mori A; Tsutsumi Z; Oida K; Nakai T; Yamamoto A
J Lipid Res; 1994 Nov; 35(11):2008-18. PubMed ID: 7868979
[TBL] [Abstract][Full Text] [Related]
19. Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
Hoffmann MM; Jacob S; Luft D; Schmülling RM; Rett K; März W; Häring HU; Matthaei S
J Clin Endocrinol Metab; 2000 Dec; 85(12):4795-8. PubMed ID: 11134145
[TBL] [Abstract][Full Text] [Related]
20. Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.
Faustinella F; Chang A; Van Biervliet JP; Rosseneu M; Vinaimont N; Smith LC; Chen SH; Chan L
J Biol Chem; 1991 Aug; 266(22):14418-24. PubMed ID: 1907278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
