نبذة مختصرة : 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 variants in the lipoprotein lipase (LPL) gene, which encodes the key enzyme responsible for triglyceride (TG) metabolism. Coincidently, all three patients harbored LPL variants on both alleles and presented with complete or severe LPL deficiency.
Relation: https://orca.cardiff.ac.uk/id/eprint/129224/1/COOPER,%20David%20-%20Identification_and_functional_characterization_of_%20%281%29.pdf; Shi, Xiao-Lei, Yang, Qi, Pu, Na, Li, Xiao-Yao, Chen, Wei-Wei, Zhou, Jing, Li, Gang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N. https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.html orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484, Chen, Jian-Min and Li, Wei-Qin 2020. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular Genetics and Genomic Medicine 8 (3) , e1048. 10.1002/mgg3.1048 https://doi.org/10.1002/mgg3.1048 file https://orca.cardiff.ac.uk/id/eprint/129224/1/COOPER,%20David%20-%20Identification_and_functional_characterization_of_%20%281%29.pdf
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