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5. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. Ishimura-Oka K; Faustinella F; Kihara S; Smith LC; Oka K; Chan L Am J Hum Genet; 1992 Jun; 50(6):1275-80. PubMed ID: 1598907 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia. Wiebusch H; Funke H; Bruin T; Bucher H; von Eckardstein A; Kastelein JJ; Assmann G Hum Mutat; 1996; 8(4):381-3. PubMed ID: 8956048 [No Abstract] [Full Text] [Related]
9. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. Reina M; Brunzell JD; Deeb SS J Lipid Res; 1992 Dec; 33(12):1823-32. PubMed ID: 1479292 [TBL] [Abstract][Full Text] [Related]
12. Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene. Van Biervliet S; Vande Velde S; De Bruyne P; Callewaert B; Verloo P; De Bruyne R Acta Gastroenterol Belg; 2024; 87(2):326-328. PubMed ID: 39210765 [No Abstract] [Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Familial chylomicronemia in a nine months old infant. Lone SW; Imdad A; Billoo AG J Coll Physicians Surg Pak; 2008 Oct; 18(10):655-6. PubMed ID: 18940129 [TBL] [Abstract][Full Text] [Related]
17. Editorial commentary: Dietary management of familial chylomicronemia syndrome. Williams L; Wilson DP J Clin Lipidol; 2016; 10(3):462-5. PubMed ID: 27206931 [No Abstract] [Full Text] [Related]