Compound Heterozygous ABCG5 Mutations Confirm Sitosterolemia in a Patient Initially Reported as Necrobiotic Xanthogranuloma: A Final Diagnosis.

Case report: The first report of a family with sitosterolemia in the Polish population.

A Rare Case of Sitosterolemia Without Dyslipidemia.

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Lipid Keratopathy in Sitosterolemia: A Case Report and Review of The Ophthalmic Manifestations.

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

Heterozygous sitosterolemia. A case study.

Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas.

From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant.

Lipoprotein X: A Cause for Misleading Levels of Low-Density Lipoprotein.

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.

Sitosterolemia and Early Atherosclerosis: A Review of Genetic Mechanisms and Newer Diagnostic Methods.

Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.

Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols.

Chronic thrombocytopenia as a marker for early detection of sitosterolemia.

Sitosterolemia Due to a New Combination of ABCG8 Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia.

Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis.

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report.

Sitosterolemia-related necrobiotic xanthogranuloma.

Sitosterolemia: Case Series of a Rare Genetic Disorder from India.

Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.

Sitosterolemia: A rare cause of nodules on elbows and knees with pediatric onset.

Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

A systematic review of ABCG8 mutation and sitosterolemia.

Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Global trends in sitosterolemia research: A bibliometric and visualization analysis.

[Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia].

Fiber in the Treatment of Dyslipidemia in Pediatric Patients.

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia.

Low-density lipoprotein cholesterol elevation, ketogenic diets, body mass index, and heterozygous ABCG5 genetic variation: Review, case report, and large population analysis.

Homozygous phytosterolemia and a literature review: A case report.

Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.

Phytosterols and phytostanols in context: From physiology and pathophysiology to food supplementation and clinical practice.

Sitosterolemia: a new ABCG5 mutation.

Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.

Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause.

Sitosterolemia with Orbital Xanthogranulomas.

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.

Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.

Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.

Sitosterolemia Presenting as Thrombocytopenia and Anemia with Abdominal Pain.

Potential sitosterolemia in necrobiotic xanthogranuloma: Comment on "Extensive yellowish masses in bilateral orbit and neck".

Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.

Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.

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.

Dried blood spot-based free sterol signatures in sitosterolemia diagnostics.

Cerebral involvement in sitosterolemia.

Opportunistic Detection of Phytosterolemia During Genetic Testing for FH: Case Series and Contextual Review.

Expanded genetic testing in familial hypercholesterolemia-A single center's experience.

Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia.

Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

[Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review].

Patient With Sitosterolemia With Slow Healing Sternal Wound From Coronary Artery Bypass Surgery.

Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.

Gene variants and clinical characteristics of children with sitosterolemia.

Family sitosterolemia: report of two cases in Colombia.

A Clinical Case of Probable Sitosterolemia.

Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.

Differential diagnosis of skin xanthomas: a rare case of sitosterolemia.

Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.

Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment.

Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.

Grayish-brown atrophy plaques in an adult.

An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.

Sitosterolemia: A Case Report and a Concise Literature Review.

Update on Sitosterolemia and Atherosclerosis.

Stomatocytes, a whistleblower for future familial cardiovascular events: Unraveling the diagnosis of sitosterolemia in an Indian family.

Phytosterols and Cardiovascular Risk Evaluated against the Background of Phytosterolemia Cases-A German Expert Panel Statement.

Could Lowering Phytosterol Absorption as Part of Lipid-Lowering Therapy Have a Beneficial Effect on Residual Risk?

Serum Values of Cholesterol Absorption and Synthesis Biomarkers in Japanese Healthy Subjects: The CACHE Study HEALTHY Analysis.

Age-related reference intervals for serum phytosterols in children by gas chromatography-mass spectrometry and its application in diagnosing sitosterolemia.

Xenosterolemia in clinical practice: what is in a name?

[Changes of thrombocytes and gut microbiota in a patient with sitosterolemia].

[Clinical analysis of 4 children with hereditary hypercholesterolemia].

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis.

Pediatric patients with familially inherited sitosterolemia: Two case reports.

The Inherited Hypercholesterolemias.

Sitosterolaemia identified due to peri-pregnancy rebound hypercholesterolaemia.

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation.

Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.

Clinical and genetic features of sitosterolemia in Japan.

A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.

Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

Features of chinese patients with sitosterolemia.

Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.

[Clinical characteristics analysis of a case of sitosterolemia due to mutation of ABCG5 gene in a child with thrombocytopenia and abnormal liver function].

Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia.

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.

Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.

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.

Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia.

Phytosterol accumulation results in ventricular arrhythmia, impaired cardiac function and death in mice.

Molecular basis of cholesterol efflux via ABCG subfamily transporters.

Carotid sheath xanthoma: A rare manifestation of lipid disorders.

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

Sitosterolemia With Atherosclerosis in a Child: A Case Report.

Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).

[A case report of rare cause of abnormal liver function: sitosterolemia].

Diagnosis and Management of Sitosterolemia 2021.

Macrothrombocytopenia and stomatocytosis in sitosterolaemia.

Typical hematological findings facilitating the diagnosis of sitosterolemia.

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

Lipid profiling and dietary assessment of infant formulas reveal high intakes of major cholesterol oxidative product (7-ketocholesterol).

Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).

Recent advances in ABCG5 and ABCG8 variants.

Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter.

Whole exome sequencing for diagnosis of hereditary thrombocytopenia.

Whole exome sequencing for non-selective pediatric patients with hyperlipidemia.

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

The ABCs of Sterol Transport.

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Orbital involvement of Sitosterolemia.

Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.

Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.

A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

Association of Dietary Phytosterols with Cardiovascular Disease Biomarkers in Humans.

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.

Can genetic testing help in the management of dyslipidaemias?

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia.

Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations.

Noncholesterol Sterols and Sitosterolemia in Clinical Practice.

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.

Features of Sitosterolemia in Children.

Phytosterolaemia associated with parenteral nutrition administration in adult patients.

A Phytosterolemic Mixture of Sterols Inhibits Cholesterol Synthesis, Esterification, and Low-Density Lipoprotein Receptor mRNA Abundance in HepG2 Cells.

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.

Phytosterolemia and γ-glutamyl transferase in adults with parenteral nutrition: Fish versus vegetal lipids: A randomized clinical trial.

ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Reference Intervals of Serum Non-Cholesterol Sterols by Gender in Healthy Japanese Individuals.

Is Plant Sterols a Good Strategy to Lower Cholesterol?

Sitosterolemia-10 years observation in two sisters.

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.

Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype.

Monogenic, polygenic, and oligogenic familial hypercholesterolemia.

Hereditary phytosterolaemia.

[Sitosterolemia (phytosterolemia)].

[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities].

Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Atypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab.

A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders.

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.

Unusual presentations of sitosterolemia limited to hematological abnormalities: A report of four cases presenting with stomatocytic anemia and thrombocytopenia with macrothrombocytes.

Stigmasterol accumulation causes cardiac injury and promotes mortality.

Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia.

Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.

Postprandial Hyperlipemia is an Indication for Additional Risk in Sitosterolemia.

Sitosterolaemia: a rare cause of accelerated atherosclerosis.

Contrasting effects of sterols on metabolism.

Two-year-old girl with tuberous xanthomas.

Progress and perspectives in plant sterol and plant stanol research.

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.

Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

Severe xanthomatosis in heterozygous familial hypercholesterolemia.

ABCG5 and ABCG8: more than a defense against xenosterols.

Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol.

The natural history of phytosterolemia: Observations on its homeostasis.

A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up.

Acute myocardial infarction in a 25-year-old woman with sitosterolemia.

The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred.

First report of Mediterranean stomatocytosis/macrothrombocytopenia in an Indian family: a diagnostic dilemma.

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.

Lipoprotein Apheresis for Sitosterolemia.

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.

Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences.

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

ABC Transport Proteins in Cardiovascular Disease-A Brief Summary.

Antiatherogenic potential of ezetimibe in sitosterolemia: Beyond plant sterols lowering.

Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia.

A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.

Clinical utility gene card for: Sitosterolaemia.

Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.

Tendon xanthomas: Not always familial hypercholesterolemia.

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.