Zobrazeno 1 - 10
of 362
pro vyhledávání: '"LPL gene"'
Autor:
Pratibha Pawal, Tukaram Aute
Publikováno v:
Bulletin of the National Research Centre, Vol 47, Iss 1, Pp 1-7 (2023)
Abstract Background Primary hypertriglyceridemia (HTG) is a very rare autosomal recessive disorder caused by the mutations of the genes related with triglyceride metabolism, including apolipoproteins and lipoprotein lipase (LPL) among others. Germlin
Externí odkaz:
https://doaj.org/article/0ed03b87e338430a81617b1af7757d1b
Autor:
Carine Ayoub, Yara Azar, Dina Maddah, Youmna Ghaleb, Sandy Elbitar, Yara Abou-Khalil, Selim Jambart, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Familial chylomicronemia syndrome is a rare autosomal recessive disorder of lipoprotein metabolism characterized by the presence of chylomicrons in fasting plasma and an important increase in plasma triglycerides (TG) levels that can exceed 22.58 mmo
Externí odkaz:
https://doaj.org/article/2c5b759b04c84417a55ba4080719ce9f
Autor:
Nehal M. El-koofy, Yasmeen A. Abdo, Dina El-Fayoumi, Amanne F. Esmael, Mohamed. A. Elmonem, Zahraa Ezzeldin
Publikováno v:
Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-8 (2021)
Abstract Background Neonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group. Methods The index case is a 4-week-old male infant with severe hypertriglyc
Externí odkaz:
https://doaj.org/article/11d0c60b509d4a8abba327d0ac97ec11
Autor:
Xiao-Yao Li, Na Pu, Wei-Wei Chen, Xiao-Lei Shi, Guo-fu Zhang, Lu Ke, Bo Ye, Zhi-Hui Tong, Yu-Hui Wang, George Liu, Jian-Min Chen, Qi Yang, Wei-Qin Li, Jie-Shou Li
Publikováno v:
Lipids in Health and Disease, Vol 19, Iss 1, Pp 1-8 (2020)
Abstract Background Hypertriglyceridemia (HTG) is a leading cause of acute pancreatitis. HTG can be caused by either primary (genetic) or secondary etiological factors, and there is increasing appreciation of the interplay between the two kinds of fa
Externí odkaz:
https://doaj.org/article/1243b89c3a374842bb1730ab4d096fa9
Autor:
Yakun Li, Man Hu, Lin Han, Lifang Feng, Luhong Yang, Xiaoqian Chen, Tingting Du, Hui Yao, Xiaohong Chen
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications incl
Externí odkaz:
https://doaj.org/article/bfba89557de74cff97c0e25b4bd31f8f
Akademický článek
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Autor:
Qi Yang, Na Pu, Xiao-Yao Li, Xiao-Lei Shi, Wei-Wei Chen, Guo-Fu Zhang, Yue-Peng Hu, Jing Zhou, Fa-Xi Chen, Bai-Qiang Li, Zhi-Hui Tong, Claude Férec, David N. Cooper, Jian-Min Chen, Wei-Qin Li
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The etiology of hypertriglyceridemia (HTG) and acute pancreatitis (AP) is complex. Herein, we dissected the underlying etiology in a patient with HTG and AP. The patient had a 20-year history of heavy alcohol consumption and an 8-year history of mild
Externí odkaz:
https://doaj.org/article/f89d8fefed9a4ee3a73051366768c66f
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Xiao‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Acute pancreatitis in pregnancy (APIP) is a life‐threatening disease for both mother and fetus. To date, only three patients with recurrent hypertriglyceridemia‐induced APIP (HTG‐APIP) have been reported to carry rare varian
Externí odkaz:
https://doaj.org/article/3a2a94776c2946f2822632a0a2c9cb88
Publikováno v:
Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-7 (2018)
Abstract Background Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis
Externí odkaz:
https://doaj.org/article/85cc942822bc43a6823cf8f0c37fe937