HuGE Literature Finder
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Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE. Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2023 1 51 (1): 10-21. Abedi Amir Hossein, Y?ld?r?m ?im?ir Ilg?n, Bayram Fahri, Onay Huseyin, Özgür Su, Mcintyre Adam, Toth Peter, Hegele Robe |
Clinical heterogeneity in monogenic chylomicronaemia. BMJ case reports 2022 11 15 (11): . Heidemann Britt E, Bemelmans Remy H H, Marais A David, Visseren Frank L J, Koopal Charlot |
Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome. The Journal of clinical endocrinology and metabolism 2021 5 106 (9): e3473-e3482. Paquette Martine, Amyot Julie, Fantino Manon, Baass Alexis, Bernard Soph |
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. Lipids in health and disease 2019 3 18 (1): 68. Chen Wei-Wei, Yang Qi, Li Xiao-Yao, Shi Xiao-Lei, Pu Na, Lu Guo-Tao, Tong Zhi-Hui, Chen Jian-Min, Li Wei-Q |
Severe Combined Dyslipidemia With a Complex Genetic Basis. Journal of investigative medicine high impact case reports 2019 9 7 2324709619877050. Le Ryan, Abbas Minan, McIntyre Adam D, Hegele Robert |
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes. Arteriosclerosis, thrombosis, and vascular biology 2019 10 39 (12): 2531-2541. D'Erasmo Laura, Di Costanzo Alessia, Cassandra Francesca, Minicocci Ilenia, Polito Luca, Montali Anna, Ceci Fabrizio, Arca Marcel |
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis. EBioMedicine 2018 Dec 38 171-177. Jin Jing-Lu, Sun Di, Cao Ye-Xuan, Zhang Hui-Wen, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Gao Ying, Dong Qiu-Ting, Liu Geng, Dong Qian, Li Jian-J |
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis. Lipids in health and disease 2018 6 17 (1): 144. Li Xiaoyao, Yang Qi, Shi Xiaolei, Chen Weiwei, Pu Na, Li Weiqin, Li Jiesh |
Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants. Journal of digestive diseases 2017 Jun 18 (6): 359-368. Chen Wan Jun, Sun Xiao Fan, Zhang Rui Xue, Xu Min Jie, Dou Tong Hai, Zhang Xiao Bin, Zhong Min, Yang Wei Qiang, Liu Li, Lu Xiao Ye, Zhu Chang Qi |
Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis. PloS one 2015 10 (6): e0129488. Xie Sai-Li, Chen Tan-Zhou, Huang Xie-Lin, Chen Chao, Jin Rong, Huang Zhi-Ming, Zhou Meng-T |
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. Journal of internal medicine 2012 Aug 272 (2): 185-96. Surendran R P, Visser M E, Heemelaar S, Wang J, Peter J, Defesche J C, Kuivenhoven J A, Hosseini M, Péterfy M, Kastelein J J P, Johansen C T, Hegele R A, Stroes E S G, Dallinga-Thie G |
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