These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 36252692)

  • 1. Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.
    Huang Y; Qin Y; Liao L; Lin F
    Clin Chim Acta; 2022 Dec; 537():112-117. PubMed ID: 36252692
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.
    Zhang Y; Zhou J; Zheng W; Lan Z; Huang Z; Yang Q; Liu C; Gao R; Zhang Y
    Lipids Health Dis; 2016 May; 15():88. PubMed ID: 27153815
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.
    D'Erasmo L; Di Costanzo A; Cassandra F; Minicocci I; Polito L; Montali A; Ceci F; Arca M
    Arterioscler Thromb Vasc Biol; 2019 Dec; 39(12):2531-2541. PubMed ID: 31619059
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.
    Falko JM
    Endocr Pract; 2018 Aug; 24(8):756-763. PubMed ID: 30183397
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel pathogenic variant combination in
    Shi H; Wang Z
    Transl Pediatr; 2022 Oct; 11(10):1717-1725. PubMed ID: 36345447
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome.
    Rioja J; Ariza MJ; Benítez-Toledo MJ; Espíldora-Hernández J; Coca-Prieto I; Arrobas-Velilla T; Camacho A; Olivecrona G; Sánchez-Chaparro MÁ; Valdivielso P
    J Clin Lipidol; 2023; 17(2):272-280. PubMed ID: 36813655
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].
    Zhu L; Li G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):156-158. PubMed ID: 32034744
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment.
    Gallo A; Béliard S; D'Erasmo L; Bruckert E
    Curr Atheroscler Rep; 2020 Aug; 22(11):63. PubMed ID: 32852651
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A lipoprotein lipase-GPI-anchored high-density lipoprotein-binding protein 1 fusion lowers triglycerides in mice: Implications for managing familial chylomicronemia syndrome.
    Nimonkar AV; Weldon S; Godbout K; Panza D; Hanrahan S; Cubbon R; Xu F; Trauger JW; Gao J; Voznesensky A
    J Biol Chem; 2020 Mar; 295(10):2900-2912. PubMed ID: 31645434
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.