• <em>ABCG5</em> and <em>ABCG8</em> gene variations associated with sitosterolemia and platelet dysfunction
• A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5
• A case of sitosterolaemia-caused systemic large-vessel stenosis mimicking Takayasu arteritis in which FDG-PET provided a clue for the differential diagnosis
• A case report of rare cause of abnormal liver function: sitosterolemia
• A Clinical Case of Probable Sitosterolemia
• A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia
• A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
• ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
• Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature
• Age-related reference intervals for serum phytosterols in children by gas chromatography-mass spectrometry and its application in diagnosing sitosterolemia
• An infant with a heterozygous variant of <em>ABCG5</em> presented with hypercholesterolemia only during breastfeeding
• Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank
• Association of ABCG5 and ABCG8 Transporters with Sitosterolemia
• Association of Dietary Phytosterols with Cardiovascular Disease Biomarkers in Humans
• Can genetic testing help in the management of dyslipidaemias?
• Carotid sheath xanthoma: A rare manifestation of lipid disorders
• Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey
• Cerebral involvement in sitosterolemia
• Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020)
• Changes of thrombocytes and gut microbiota in a patient with sitosterolemia
• Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review
• Clinical analysis of 4 children with hereditary hypercholesterolemia
• Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation
• Clinical and genetic features of sitosterolemia in Japan
• Clinical characteristics analysis of a case of sitosterolemia due to mutation of ABCG5 gene in a child with thrombocytopenia and abnormal liver function
• Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation
• Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
• Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia
• Compound heterozygous variants in the <em>ABCG8</em> gene in a Japanese girl with sitosterolemia
• Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
• Could Lowering Phytosterol Absorption as Part of Lipid-Lowering Therapy Have a Beneficial Effect on Residual Risk?
• Diagnosis and Management of Sitosterolemia 2021
• Differential diagnosis of skin xanthomas: a rare case of sitosterolemia
• Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
• Dried blood spot-based free sterol signatures in sitosterolemia diagnostics
• Expanded genetic testing in familial hypercholesterolemia-A single center's experience
• Ezetimibe
• Ezetimibe
• Family sitosterolemia: report of two cases in Colombia
• Features of chinese patients with sitosterolemia
• Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis
• Gene variants and clinical characteristics of children with sitosterolemia
• Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease
• Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
• Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association
• Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol
• Grayish-brown atrophy plaques in an adult
• Heterozygous <em>ABCG5</em> Gene Deficiency and Risk of Coronary Artery Disease
• High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence
• Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia
• Lipid profiling and dietary assessment of infant formulas reveal high intakes of major cholesterol oxidative product (7-ketocholesterol)
• Macrothrombocytopenia and stomatocytosis in sitosterolaemia
• Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia
• Molecular basis of cholesterol efflux via ABCG subfamily transporters
• Noncholesterol Sterols and Sitosterolemia in Clinical Practice
• Orbital involvement of Sitosterolemia
• Patient With Sitosterolemia With Slow Healing Sternal Wound From Coronary Artery Bypass Surgery
• Pediatric patients with familially inherited sitosterolemia: Two case reports
• Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
• Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia
• Phytosterol accumulation results in ventricular arrhythmia, impaired cardiac function and death in mice
• Phytosterols and Cardiovascular Risk Evaluated against the Background of Phytosterolemia Cases-A German Expert Panel Statement
• Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations
• Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia
• Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design
• Putative Pathogenic Variants of <em>ABCG5</em> and <em>ABCG8</em> of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia
• Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia
• Recent advances in ABCG5 and ABCG8 variants
• Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease
• Remediation of <em>ABCG5</em>-Linked Macrothrombocytopenia With Ezetimibe Therapy
• Screening of <em>ABCG5</em> and <em>ABCG8</em> Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
• Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
• Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations
• Serum Values of Cholesterol Absorption and Synthesis Biomarkers in Japanese Healthy Subjects: The CACHE Study HEALTHY Analysis
• Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female
• Sitosterolaemia identified due to peri-pregnancy rebound hypercholesterolaemia
• Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment
• Sitosterolemia
• Sitosterolemia
• Sitosterolemia (Phytosterolemia)
• Sitosterolemia (Phytosterolemia)
• Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab
• Sitosterolemia presenting with consistent skin xanthomas in a pair of monozygotic twins responded to ezetimibe treatment
• Sitosterolemia With Atherosclerosis in a Child: A Case Report
• Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl
• Sitosterolemia: A Case Report and a Concise Literature Review
• Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia)
• Sitosterolemia: Twenty Years of Discovery of the Function of <em>ABCG5</em><em>ABCG8</em>
• Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8
• Stomatocytes, a whistleblower for future familial cardiovascular events: Unraveling the diagnosis of sitosterolemia in an Indian family
• The ABCs of Sterol Transport
• The Inherited Hypercholesterolemias
• Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter
• Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?
• Typical hematological findings facilitating the diagnosis of sitosterolemia
• Unmasking a Case of Sitosterolaemia: An Approach for Diagnosis and Management
• Update on Sitosterolemia and Atherosclerosis
• Whole exome sequencing for diagnosis of hereditary thrombocytopenia
• Whole exome sequencing for non-selective pediatric patients with hyperlipidemia
• Xenosterolemia in clinical practice: what is in a name?