Associated Papers
Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review.
Nguyen CS et al.
Case Reports in Endocrinology, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.
Bashir B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2024
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
Hu Y et al.
Lipids in Health and Disease, 2024
Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population.
Li Y et al.
Archives of Endocrinology and Metabolism, 2024
Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis.
Wu H et al.
Kidney International Reports, 2023
Vicious cycle of hypertriglyceridaemia and hyperglycaemia in an atypical case of lipoprotein lipase deficiency.
Tong HF et al.
Pathology, 2022
Lysosomal acid lipase deficiency diagnosed in a patient presenting with acute myeloid leukaemia.
Hsu H et al.
British Journal of Haematology, 2021
Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.
El-Koofy NM et al.
Lipids in Health and Disease, 2021
A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.
Wang F et al.
Frontiers in Pediatrics, 2021
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.
Plengpanich W et al.
Molecular Genetics and Metabolism Reports, 2020
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Li XY et al.
Lipids in Health and Disease, 2020
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.
Shi XL et al.
Molecular Genetics & Genomic Medicine, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.
Han P et al.
Journal of Cellular and Molecular Medicine, 2020
Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children
Poon SWY et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
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.
Li X et al.
Lipids in Health and Disease, 2018
Association of the HindIII Lipoprotein Lipase Gene Polymorphism with the Development of the Non-Biliary Acute Pancreatitis: a Pilot Study.
Samgina TA et al.
Bulletin of Experimental Biology and Medicine, 2016
Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.
Xie SL et al.
Plos One, 2015
A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis.
Chen TZ et al.
Lipids in Health and Disease, 2014
[The association study of the promoter polymorphism -308G>A of tumor necrosis factor gene with the development and severity of acute pancreatitis in Russian population of Kursk region].
Samgina TA et al.
Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2014
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.
Khovidhunkit W et al.
Journal of Clinical Lipidology, 0
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Xia Y et al.
Journal of Clinical Lipidology, 0
Differential effects of volanesorsen on apoC-III, triglycerides, and pancreatitis in familial chylomicronemia syndrome diagnosed by genetic or nongenetic criteria.
Tsimikas S et al.
Journal of Clinical Lipidology, 0