• <em>APOB</em> CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
• A 41-Year-Old Woman with Excessive Fat of the Lower Body Since Puberty with Progression to Swollen Ankles and Feet Despite Caloric Restriction, Due to Lipedema and Protein-Calorie Malnutrition: A Case of Stage 3 Lipedema
• A case of hypocholesterolemia under study
• A case of mesenteric panniculitis in a patient with Tangier disease
• A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
• A case of primary ciliary dyskinesia and abetalipoproteinaemia
• A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach
• A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
• A hypolipoprotein sepsis phenotype indicates reduced lipoprotein antioxidant capacity, increased endothelial dysfunction and organ failure, and worse clinical outcomes
• A novel homozygous frameshift mutation in the APOA1 gene associated with marked high-density lipoprotein deficiency
• A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases
• A novel pathogenic variant in LCAT causing FLD. A case report
• A rare case of nephrotic syndrome and Tangier disease
• A rare case of renal involvement in Lecithin-Cholesterol Acyltransferase (LCAT) deficiency: lessons for the clinical nephrologist
• A Rare Mutation in The <em>APOB</em> Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia
• A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency
• Abeta- and Hypobeta- lipoproteinemia
• Abetalipoproteinemia Due to a Novel Splicing Variant in <em>MTTP</em> in 3 Siblings
• Acanthocytosis in an alectinib-treated patient
• Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia
• Administration of the High-Density Lipoprotein Mimetic CER-001 for Inherited Lecithin-Cholesterol Acyltransferase Deficiency
• Alectinib induces marked red cell spheroacanthocytosis in a near-ubiquitous fashion and is associated with reduced eosin-5-maleimide binding
• An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia
• Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum
• Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients
• CER-001 ameliorates lipid profile and kidney disease in a mouse model of familial LCAT deficiency
• Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series
• Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria
• Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review
• Chylomicron retention disease: a rare aetiology of failure to thrive
• Clinical Dilemma of Corneal Opacity, Very Low High-density Lipoprotein, and Nephrotic Syndrome: Mystery Revealed
• Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects
• Correction of Familial LCAT Deficiency by AAV-hLCAT Prevents Renal Injury and Atherosclerosis in Hamsters-Brief Report
• Current Diagnosis and Management of Abetalipoproteinemia
• Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1
• Current Diagnosis and Management of Tangier Disease
• Current Status of Familial LCAT Deficiency in Japan
• Deep learning-based dose map prediction for high-dose-rate brachytherapy
• Early-onset atherosclerosis in a patient with Tangier disease: Not all that is gold glitters
• Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study
• Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson-Fabry disease
• Esterification of 4β-hydroxycholesterol and other oxysterols in human plasma occurs independently of LCAT
• Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia
• Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report
• Familial Hypobetalipoproteinemia: An Underrecognized Cause of Lean NASH
• Familial LCAT deficiency and cardiovascular disease: the game is not over. A case of dramatic multivessel atherosclerosis
• Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins
• Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020
• Genetically determined deficiency of ANGPTL3 does not alter HDL ability to preserve endothelial homeostasis
• Guidance for the diagnosis and treatment of hypolipidemia disorders
• Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature
• Hypo-High-Density Lipoproteinemia Is Associated With Preoperative Tear Size and With Postoperative Retear in Large to Massive Rotator Cuff Tears
• Hypotriglyceridemias/hypolipidemias
• Illuminating Kir channel function in Anderson-Tawil syndrome
• Increased carotid intima-media thickness and cardiometabolic risk factors are associated with IL-6 gene polymorphisms in Mexican individuals: The Genetics of Atherosclerotic Disease Mexican study
• Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons
• Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation <em>APOB</em> c.1468C&gt;T
• Interleukin 6 polymorphisms are associated with cardiovascular risk factors in premature coronary artery disease patients and healthy controls of the GEA Mexican study
• Intravascular lithotripsy to treat an ostial left main coronary artery stenosis due to porcelain aorta in a patient with congenital high-density lipoprotein deficiency
• LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred
• LCAT- targeted therapies: Progress, failures and future
• Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
• Low cholesterol states: clinical implications and management
• Low cholesterol syndrome and drug development
• Low high-density lipoprotein and increased risk of several cancers: 2 population-based cohort studies including 116,728 individuals
• Low LDL-C goal attainment in patients at very high cardiovascular risk due to lacking observance of the guidelines on dyslipidaemias
• Marked Acanthocytosis Associated With Klipple Trenaunay Syndrom
• Metabolic syndrome and its components are associated with non-arteritic anterior ischaemic optic neuropathy
• Metabolomic analysis of plasma from normal-weight adults with hypo-HDL cholesterolemia by UPLC-QTOF MS
• Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium
• Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases
• Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
• New Classification and Management of Abetalipoproteinemia and Related Disorders
• Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene
• Novel <em>MTTP</em> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
• Novel APOB mutation in familial hypobetalipoproteinemia
• Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review
• Novel lecithin: cholesterol acyltransferase-based therapeutic approaches
• Novel therapeutic opportunities for familial lecithin:cholesterol acyltransferase deficiency: promises and challenges
• Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
• Phenotypic Findings in Patients With <em>KCNJ2</em>-Related Anderson-Tawil Syndrome
• Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans
• Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages
• Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort
• Rapid Decrease in HDL-C in the Puberty Period of Boys Associated with an Elevation of Blood Pressure and Dyslipidemia in Korean Teenagers: An Explanation of Why and When Men Have Lower HDL-C Levels Than Women
• Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family
• Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease
• Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease
• Sex-Specific Association between Serum Vitamin D Status and Lipid Profiles: A Cross-Sectional Study of a Middle-Aged and Elderly Chinese Population
• Spontaneous Atherosclerosis in Aged LCAT-Deficient Hamsters With Enhanced Oxidative Stress-Brief Report
• Tangier disease in family with the phenotype of familial hypercholesterolemia
• The Aging Features of Thyrotoxicosis Mice: Malnutrition, Immunosenescence and Lipotoxicity
• The HDL mimetic CER-001 remodels plasma lipoproteins and reduces kidney lipid deposits in inherited lecithin:cholesterol acyltransferase deficiency
• The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease
• Two Cases of Acquired High-Density Lipoprotein Deficiency with Immunoglobulin G4-Related Lecithin-Cholesterol Acyltransferase Autoantibody
• Unusual White-Yellowish Dots in the Colon Reveal a Rare Metabolic Disease
• Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
• Variants in the <em>GPR146</em> Gene Are Associated With a Favorable Cardiometabolic Risk Profile
• White-Out Duodenal Mucosa: Clue to a Systemic Diagnosis
• Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia