336 results match your criteria Low HDL Cholesterol Hypoalphalipoproteinemia


Whole Exome Sequencing Reveals Damaging Gene Variants Associated with Hypoalphalipoproteinemia.

J Lipid Res 2022 Apr 20:100209. Epub 2022 Apr 20.

Cardiovascular Research Institute, University of California, San Francisco, CA, USA; Physiological Nursing, University of California, San Francisco, CA, USA. Electronic address:

Low levels of high-density lipoprotein cholesterol (HDL-C) are associated with elevated risk of arteriosclerotic coronary heart disease. Heritability of HDL-C levels is high. In this research discovery study, we used whole exome sequencing (WES) to identify damaging gene variants that may play significant roles in determining HDL-C levels. Read More

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Lipid and Lipoprotein Profile in HIV-Infected and Non-Infected Diabetic Patients: A Comparative Cross-Sectional Study Design, Southwest Ethiopia.

HIV AIDS (Auckl) 2021 24;13:1119-1126. Epub 2021 Dec 24.

Ambo University Hospital, Ambo, Ethiopia.

Background: Lipoproteins are complexes of lipids and proteins that are essential for the transport of cholesterol, triglycerides, and fat-soluble vitamins. The linkage between chronic diseases like diabetes mellitus and HIV infection increases the complication of the diseases and worsens the clinical outcome of the patients.

Purpose: To assess and compare lipid and lipoprotein profiles among HIV-infected and non-infected diabetic patients, and to identify independent predictor variables for abnormal lipid and lipoprotein profiles. Read More

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December 2021

Current Diagnosis and Management of Tangier Disease.

J Atheroscler Thromb 2021 Aug 14;28(8):802-810. Epub 2021 May 14.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Tangier disease is a genetic disorder characterized by an absence or extremely low level of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation of the ATP-binding cassette transporter A1 (ABCA1) gene, the mandatory gene for generation of HDL particles from cellular cholesterol and phospholipids, and it appears in an autosomal recessive hereditary profile. To date, 35 cases have been reported in Japan and 109 cases outside Japan. Read More

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Current Status of Familial LCAT Deficiency in Japan.

J Atheroscler Thromb 2021 Jul 18;28(7):679-691. Epub 2021 Apr 18.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Lecithin cholesterol acyltransferase (LCAT) is a lipid-modification enzyme that catalyzes the transfer of the acyl chain from the second position of lecithin to the hydroxyl group of cholesterol (FC) on plasma lipoproteins to form cholesteryl acylester and lysolecithin. Familial LCAT deficiency is an intractable autosomal recessive disorder caused by inherited dysfunction of the LCAT enzyme. The disease appears in two different phenotypes depending on the position of the gene mutation: familial LCAT deficiency (FLD, OMIM 245900) that lacks esterification activity on both HDL and ApoB-containing lipoproteins, and fish-eye disease (FED, OMIM 136120) that lacks activity only on HDL. Read More

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Tangier disease in family with the phenotype of familial hypercholesterolemia.

Vnitr Lek 2020 ;66(7):443-446

Within the project MedPed (Make Early Diagnosis to Prevent Deaths) we have examined patient with familial hypercholesterolemia in our lipid ambulance. During the following investigation of the patients family we found out that her sister has on the contrary very low levels of  total and LDL-cholesterol. Concentration of  HDL-cholesterol was extreamly low (almost immeasurable). Read More

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January 2021

Low high-density lipoprotein and increased risk of several cancers: 2 population-based cohort studies including 116,728 individuals.

J Hematol Oncol 2020 09 30;13(1):129. Epub 2020 Sep 30.

Department of Clinical Biochemistry, Copenhagen University Hospital, Herlev and Gentofte Hospital, Borgmester Ib Juuls Vej 1, DK-2730, Herlev, Denmark.

Background: Increasing evidence suggests that high-density lipoprotein (HDL) may play a role in cancer development. We tested the hypothesis that low HDL levels are associated with increased risk of cancer.

Methods: Individuals from two population-based cohorts, the Copenhagen General Population Study (2003-2015, N = 107 341), and the Copenhagen City Heart Study (1991-1994, N = 9387) were followed prospectively until end of 2016 to assess low plasma HDL cholesterol and apolipoprotein A1 as risk factors for cancer using Cox proportional hazard regression. Read More

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September 2020

Spontaneous Atherosclerosis in Aged LCAT-Deficient Hamsters With Enhanced Oxidative Stress-Brief Report.

Arterioscler Thromb Vasc Biol 2020 12 1;40(12):2829-2836. Epub 2020 Oct 1.

Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education (M.G., P.M., W.H., Y.W., G.L., X.X.), Peking University, Beijing, China.

Objective: LCAT (lecithin cholesterol acyltransferase) deficiency results in severe low HDL (high-density lipoprotein). Although whether LCAT is pro- or antiatherosclerosis was in debate in mouse studies, our previous study clearly shows that LCAT deficiency (LCAT) in hamster accelerates atherosclerotic development on high-fat diet. However, unlike in hypercholesterolemia and hypertriglyceridemia, whether LCAT deficiency could lead to spontaneous atherosclerosis has not been studied yet in animal models. Read More

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December 2020

No benefit of HDL mimetic CER-001 on carotid atherosclerosis in patients with genetically determined very low HDL levels.

Atherosclerosis 2020 10 29;311:13-19. Epub 2020 Aug 29.

Department of Vascular Medicine, Amsterdam University Medical Centers, Amsterdam, the Netherlands. Electronic address:

Background And Aims: Infusion of high-density lipoprotein (HDL) mimetics failed to induce regression of atherosclerosis in recent randomized clinical trials. However, patients in these previous trials had normal levels of HDL-cholesterol, which potentially limited efficacy. Patients with very low levels of HDL-cholesterol and impaired cholesterol efflux capacity can be expected to derive the most potential benefit from infusion of HDL mimetics. Read More

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October 2020

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Curr Opin Lipidol 2020 08;31(4):232-237

Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy.

Purpose Of Review: Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers.

Recent Findings: Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. Read More

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Associations between residential greenness and blood lipids in Chinese Uyghur adults.

Environ Int 2020 09 27;142:105903. Epub 2020 Jun 27.

Guangzhou Center for Disease Control and Prevention, Guangzhou 510440, China. Electronic address:

Background: Dyslipidemia is a major risk factor for cardiovascular disease. Several studies have explored the associations of greenness with blood lipids. However, the evidence is still limited and mixed, especially in rural areas. Read More

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September 2020

Is long-term PM exposure associated with blood lipids and dyslipidemias in a Chinese rural population?

Environ Int 2020 05 8;138:105637. Epub 2020 Mar 8.

Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia; Department of Epidemiology and Biostatistics, School of Public Health, Zhengzhou University, Zhengzhou, Henan, China.

Background: Air pollution has been shown to be associated with blood lipid levels. However, studies on long-term ambient particulate matter with aerodynamic diameter ≤1 μm (PM) exposure in high-exposure areas are still limited. This study aimed to explore the associations among long-term PM exposure, blood lipids and dyslipidemias. Read More

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Novel lecithin: cholesterol acyltransferase-based therapeutic approaches.

Curr Opin Lipidol 2020 04;31(2):71-79

Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda.

Purpose Of Review: To review recent lecithin:cholesterol acyltransferas (LCAT)-based therapeutic approaches for atherosclerosis, acute coronary syndrome, and LCAT deficiency disorders.

Recent Findings: A wide variety of approaches to using LCAT as a novel therapeutic target have been proposed. Enzyme replacement therapy with recombinant human LCAT is the most clinically advanced therapy for atherosclerosis and familial LCAT deficiency (FLD), with Phase I and Phase 2A clinical trials recently completed. Read More

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LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

Atherosclerosis 2020 03 31;297:8-15. Epub 2020 Jan 31.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy. Electronic address:

Background And Aims: Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of LIPA gene mutations on lipid/lipoprotein metabolism are limited. Aim of the study was to investigate the effect of carrying one or two mutant LIPA alleles on lipoprotein composition and function. Read More

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R230C but not - 565C/T variant of the ABCA1 gene is associated with type 2 diabetes in Mexicans through an effect on lowering HDL-cholesterol levels.

J Endocrinol Invest 2020 Aug 3;43(8):1061-1071. Epub 2020 Feb 3.

Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Tlalpan, Belisario Domínguez Sección XVI, 14080, Mexico City, Mexico.

Purpose: Type 2 diabetes (T2D) and low serum concentration of high-density lipoprotein cholesterol (HDL-c) are common coexisting metabolic disorders. ABCA1 variants have been shown to be associated to these conditions. We sought to test the combined effect of two ABCA1 gene common variants, rs2422493 (- 565C > T) and rs9282541 (R230C) on HDL-c levels and T2D risk. Read More

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Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Lipids Health Dis 2019 Jun 5;18(1):132. Epub 2019 Jun 5.

Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is characterized by very low plasma HDL-cholesterol levels (Hypoalphalipoproteinemia), corneal opacity and anemia, among other lipid-related traits. Our aim is to evaluate clinical/biochemical features of a Chilean family with a proband showing clinical signs of familial LCAT deficiency, as well as to identify and assess the functional effects of LCAT mutations. Read More

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Paraoxonase-1 activities in individuals with different HDL circulating levels: Implication in reverse cholesterol transport and early vascular damage.

Atherosclerosis 2019 06 11;285:64-70. Epub 2019 Apr 11.

Department of Medical Sciences, Internal Medicine and CardioRespiratory Section, University of Ferrara, Ferrara, Italy. Electronic address:

Background And Aims: Epidemiological data showing that high-density lipoprotein cholesterol (HDL-C) is inversely associated with cardiovascular disease have led to the idea that cholesterol contained in this lipoprotein may be protective. Against, recent evidence suggests that the athero-protection from HDLs may result from other functions, unrelated to the carried cholesterol. HDL accessory proteins, such as paraoxonase 1 (PON1), have been suggested to endows HDL with antioxidant and anti-inflammatory properties and to contribute to the athero-protective function of the lipoprotein. Read More

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HIV disease, metabolic dysfunction and atherosclerosis: A three year prospective study.

PLoS One 2019 18;14(4):e0215620. Epub 2019 Apr 18.

Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.

HIV infection is known to be associated with cardiometabolic abnormalities; here we investigated the progression and causes of these abnormalities. Three groups of participants were recruited: HIV-negative subjects and two groups of treatment-naïve HIV-positive subjects, one group initiating antiretroviral treatment, the other remaining untreated. Intima-media thickness (cIMT) increased in HIV-positive untreated group compared to HIV-negative group, but treatment mitigated the difference. Read More

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January 2020

Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo.

J Lipid Res 2019 05 26;60(5):1050-1057. Epub 2019 Feb 26.

Translational Vascular Medicine Branch National Institutes of Health, Bethesda, MD; the NIH Clinical Center National Institutes of Health, Bethesda, MD.

Familial LCAT deficiency (FLD) patients accumulate lipoprotein-X (LP-X), an abnormal nephrotoxic lipoprotein enriched in free cholesterol (FC). The low neutral lipid content of LP-X limits the ability to detect it after separation by lipoprotein electrophoresis and staining with Sudan Black or other neutral lipid stains. A sensitive and accurate method for quantitating LP-X would be useful to examine the relationship between plasma LP-X and renal disease progression in FLD patients and could also serve as a biomarker for monitoring recombinant human LCAT (rhLCAT) therapy. Read More

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[Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review].

Ann Pathol 2019 Apr 12;39(2):172-176. Epub 2018 Dec 12.

Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France; Inserm U1263, C2VN, Aix Marseille université, 13006 Marseille, France.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Read More

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A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.

Biochem Biophys Res Commun 2019 01 30;508(2):487-493. Epub 2018 Nov 30.

Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Italy; Pasteur Institute Cenci Bolognetti Foundation, Sapienza University of Rome, Italy. Electronic address:

Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Clinical heterogeneity and mutational pattern of Tangier disease are poorly characterized. Read More

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January 2019

NUtraceutical TReatment for hYpercholesterolemia in HIV-infected patients: The NU-TRY(HIV) randomized cross-over trial.

Atherosclerosis 2019 01 14;280:51-57. Epub 2018 Nov 14.

Unit of Infectious Diseases, Department of Medicine, University of Perugia, Perugia, 06129, Italy.

Background And Aims: Despite hypercholesterolemia has been recognized to increase cardiovascular risk in human immunodeficiency virus (HIV)-infected patients, cholesterol-lowering therapy is underused in this population, due to fear of drug-drug interactions with antiretroviral therapy (ART). We investigated the effects of a nutraceutical combination (NC) on lipid profile, proprotein convertase subtilisin/kexin type 9 (PCSK9), subclinical inflammation and arterial stiffness in ART-treated HIV-infected patients.

Methods: This was a prospective randomized open-label trial with a cross-over design including 30 stable HIV-infected patients on ART with low-density lipoprotein cholesterol (LDL-C) >115 mg/dL, not taking lipid-lowering treatment. Read More

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January 2019

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

J Clin Lipidol 2018 Nov - Dec;12(6):1374-1382. Epub 2018 Sep 1.

Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France. Electronic address:

Background: The Middle East region is characterized by low levels of high-density lipoprotein cholesterol (HDL-C). To date, no genetic study has investigated the cause of low HDL-C in the Lebanese population.

Objective: Our objective was to study the genetic causes for hypoalphalipoproteinemia in a Lebanese family with extremely low HDL-C levels. Read More

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October 2019

Is Low-Density Lipoprotein Cholesterol the Key to Interpret the Role of Lecithin:Cholesterol Acyltransferase in Atherosclerosis?

Circulation 2018 09;138(10):1008-1011

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (C.V., M.C.).

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September 2018

Hypoalphalipoproteinemia and BRAF Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.

Arterioscler Thromb Vasc Biol 2018 08;38(8):1913-1925

Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Hôpital de la Pitié, Sorbonne Université, Paris, France (M.G., F.S.-C., Y.A., E.F., P.L., W.L.G.).

Objective- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the infiltration of multiple tissues with lipid-laden histiocytes. Cardiovascular involvement is frequent in ECD and leads to a severe prognosis. The objective of this study was to determine whether an alteration of lipid metabolism participates in the lipid accumulation in histiocytes and the cardiovascular involvement in ECD. Read More

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High density lipoprotein cholesterol and cancer: Marker or causative?

Prog Lipid Res 2018 07 4;71:54-69. Epub 2018 Jun 4.

Department of Hypertension, WAM University Hospital in Lodz, Medical University of Lodz, Zeromskiego 113, Lodz, Poland; Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland; Cardiovascular Research Centre, University of Zielona Gora, Zielona Gora, Poland. Electronic address:

The relationship between high-density lipoproteins (HDLs), HDL-cholesterol (HDLC) and cancer incidence and mortality is controversial. Although most studies conducted so far, including well-designed prospective studies and meta-analyses, have revealed a significant inverse association between HDL-C levels and cancer risk, several confounding factors and opposite results showing either a direct or an inverse association between HDL-C levels and cancer mortality have hindered the possibility to derive definitive conclusions. Moreover, different lines of research also pointed out that this association might actually reflect an inverse causality, which would imply that low HDL-C levels merely represent an epiphenomenon of cancer-related inflammation and cancer cell renewal. Read More

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Large-scale deletions of the gene in patients with hypoalphalipoproteinemia.

J Lipid Res 2018 08 4;59(8):1529-1535. Epub 2018 Jun 4.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada

Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extreme levels of HDL cholesterol. We evaluated targeted, next-generation sequencing data from patients with very low levels of HDL cholesterol (i.e. Read More

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Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.

Arterioscler Thromb Vasc Biol 2018 07 31;38(7):1440-1453. Epub 2018 May 31.

From the Department of Pediatrics, Section of Molecular Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands (F.O., J.C.W., B.v.d.S., J.A.K.)

Objective: Studies into the role of LRP1 (low-density lipoprotein receptor-related protein 1) in human lipid metabolism are scarce. Although it is known that a common variant in (rs116133520) is significantly associated with HDL-C (high-density lipoprotein cholesterol), the mechanism underlying this observation is unclear. In this study, we set out to study the functional effects of 2 rare variants identified in subjects with extremely low HDL-C levels. Read More

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A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia.

J Clin Lipidol 2018 Jul - Aug;12(4):878-882. Epub 2018 Apr 21.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. Electronic address:

Low high-density lipoprotein cholesterol (HDL-C) can be caused by several acquired secondary causes as well as primary genetic disorders. However, only a few conditions are associated with profoundly reduced levels below 10 mg/dL. We present an unusual case of a healthy man with severely decreased HDL-C because of a novel homozygous variant causing a Proline > Arginine amino acid change at position 1412 in the ATP-binding cassette transporter A1 gene. Read More

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October 2019

Hepatic Overexpression of Endothelial Lipase Lowers High-Density Lipoprotein but Maintains Reverse Cholesterol Transport in Mice: Role of Scavenger Receptor Class B Type I/ATP-Binding Cassette Transporter A1-Dependent Pathways.

Arterioscler Thromb Vasc Biol 2018 07 10;38(7):1454-1467. Epub 2018 May 10.

From the Division of Anti-Aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College, Tokorozawa, Japan (S.T., M.A., E.Y., T.N., K.N., M.S., M.I., H.U.-K., Y.T., M.Y., T.K., K.I.).

Objective: Reverse cholesterol transport (RCT) is a major mechanism by which HDL (high-density lipoprotein) protects against atherosclerosis. Endothelial lipase (EL) reportedly reduces HDL levels, which, in theory, would increase atherosclerosis. However, it remains unclear whether EL affects RCT in vivo. Read More

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