Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review

Q Ain, M Cevc, T Marusic, J Sikonja, F Sadiq… - Frontiers in …, 2024 - frontiersin.org
Introduction Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and
environmental factors that frequently results from loss-of-function variants in the gene …

Evaluation of the chylomicron‐TG to VLDL‐TG ratio for type I hyperlipoproteinemia diagnostic

J Rioja, MJ Ariza, N García‐Casares… - European Journal of …, 2020 - Wiley Online Library
Background The aim of this study is to confirm the diagnostic performance of the
Chylomicron to very low‐density lipoproteins triglycerides (CM/VLDL‐TG) ratio, the …

Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society

MJ Ariza, J Rioja, D Ibarretxe, A Camacho… - Journal of Clinical …, 2018 - Elsevier
Background Familial chylomicronemia syndrome (FCS) is an extremely rare lipoprotein
disorder caused by mutations in at least 5 genes of the lipoprotein lipase (LPL) complex …

Variants of lipid-related genes in adult Japanese patients with severe hypertriglyceridemia

A Matsunaga, M Nagashima, H Yamagishi… - … of Atherosclerosis and …, 2020 - jstage.jst.go.jp
Aim: Hypertriglyceridemia is a type of dyslipidemia that contributes to atherosclerosis and
coronary heart disease. Variants in lipoprotein lipase (LPL), apolipoprotein CII (APOC2) …

Whole-genome resequencing and bisulfite sequencing provide new insights into the feeding habit domestication in mandarin fish (Siniperca chuatsi)

L Li, S He, MH Lin, YP Zhang, H Kuhl… - Frontiers in Genetics, 2023 - frontiersin.org
Mandarin fish (Siniperca chuatsi) is one of the most economically important fish in China.
However, it has the peculiar feeding habit that it feeds solely on live prey fish since first …

Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis

MJ Ariza, C Pérez-López, F Almagro… - Clinica Chimica …, 2020 - Elsevier
Introduction Pathogenic variants in lipoprotein lipase (LPL) and glycosylphosphatidylinositol-
anchored high-density lipoprotein-binding protein 1 (GPIHBP1) have been described in …

Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations

GB Vigna, N Citroni, P Tarugi, R Fellin - Journal of Clinical Lipidology, 2022 - Elsevier
Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder,
characterized by marked elevation of plasma triglycerides, often diagnosed in infancy. We …

[HTML][HTML] Deciphering the role of V200A and N291S mutations leading to LPL deficiency

M Botta, E Maurer, M Ruscica, S Romeo, TM Stulnig… - Atherosclerosis, 2019 - Elsevier
Background and aims Type I hyperlipoproteinemia is an autosomal recessive disorder of
lipoprotein metabolism caused by mutations in the LPL gene, with an estimated prevalence …

Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population

Y Li, H Cai, Y Lin, Z Huang, A Zhou, T Huang… - … of Endocrinology and …, 2024 - SciELO Brasil
Objective: The study aims to explore the relationship between lipoprotein lipase (LPL)
variants and hyperlipidemic acute pancreatitis (HLAP) in the southeastern Chinese …

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

S Wang, Y Cheng, Y Shi, W Zhao, L Gao… - Frontiers in …, 2022 - frontiersin.org
Background Type I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is
caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene. To date …