• 17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study
• 2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia
• A case of primary ciliary dyskinesia and abetalipoproteinaemia
• A Male Infant with Abetalipoproteinemia: A Case Report from Iran
• A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption
• 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 Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia
• A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
• A Thorny Finding: Unexpected Acanthocytosis in an Elderly Patient
• Abetalipoproteinemia
• Abetalipoproteinemia
• Abetalipoproteinemia Due to a Novel Splicing Variant in <em>MTTP</em> in 3 Siblings
• Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings
• Abetalipoproteinemia From Previously Unreported Gene Mutations
• Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease
• Acanthocytosis
• Acanthocytosis
• Acanthocytosis and brain damage in area postrema and choroid plexus: Description of novel signs of Loxosceles apachea envenomation in rats
• Acanthocytosis causing chronic hemolysis in a patient with advanced cirrhosis
• Acanthocytosis in an alectinib-treated patient
• Acanthocytosis in progressive childhood dystonia
• Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia
• Alectinib induces marked red cell spheroacanthocytosis in a near-ubiquitous fashion and is associated with reduced eosin-5-maleimide binding
• An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia
• An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia
• Bruising as the first sign of exocrine pancreatic insufficiency in infancy
• Can LDL cholesterol be too low? Possible risks of extremely low levels
• Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients
• Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities
• Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series
• Chylomicrons: Advances in biology, pathology, laboratory testing, and therapeutics
• Complex genetic architecture in severe hypobetalipoproteinemia
• Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions)
• Current Diagnosis and Management of Abetalipoproteinemia
• Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1
• Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years
• Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease
• Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings
• Finding the Therapeutic Sweet Spot: Using Naturally Occurring Human Variants to Inform Drug Design
• Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins
• Generation of hepatoma cell lines deficient in microsomal triglyceride transfer protein
• Guidance for the diagnosis and treatment of hypolipidemia disorders
• High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population
• Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature
• Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
• How low is too low: Statin induced hemolysis
• HYPERGLYCAEMIC HEMIBALLISMUS: IMPLICATIONS FROM CONNECTIVITY ANALYSIS FOR COGNITIVE IMPAIRMENTS
• Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease
• Hypolipidemia in a Special Operations Candidate: Case Report and Review of the Literature
• Hypotriglyceridemias/hypolipidemias
• Identification and characterisation of a rare <em>MTTP</em> variant underlying hereditary non-alcoholic fatty liver disease
• Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
• Impaired Chylomicron Assembly Modifies Hepatic Metabolism Through Bile Acid-Dependent and Transmissible Microbial Adaptations
• Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options
• Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
• Laboratory investigations
• Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress
• Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
• Low cholesterol states: clinical implications and management
• Marked Acanthocytosis Associated With Klipple Trenaunay Syndrom
• Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report
• Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up
• Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide
• Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases
• Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients
• Molecular Mechanisms of Sphingolipid Transport on Plasma Lipoproteins
• MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study
• Neuroacanthocytosis
• Neuroacanthocytosis
• New Classification and Management of Abetalipoproteinemia and Related Disorders
• New pathogenic mutation of chorea-acanthocytosis
• Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene
• Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia
• Novel <em>MTTP</em> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
• Novel <em>MTTP</em> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
• Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal beta-Barrel in Microsomal Triglyceride Transfer Protein Function
• Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
• Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
• Novel mutations of SAR1B gene in four children with chylomicron retention disease
• Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy
• Photoinactivation of Neisseria gonorrhoeae: A Paradigm-Changing Approach for Combating Antibiotic-Resistant Gonococcal Infection
• Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families
• Progress in the Diagnosis and Management of Chorea-acanthocytosis
• Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design
• Rare Diseases Related with Lipoprotein Metabolism
• Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
• Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
• Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF)
• The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
• The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders
• Treatable Ataxias: How to Find the Needle in the Haystack?
• Two infants with abetalipoproteinemia: Classic versus atypical presentation
• Unique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications
• Unusual Presentation of Cow's Milk Protein Allergy
• Update on the molecular biology of dyslipidemias
• Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
• Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia
• Vitamin-Responsive Movement Disorders in Children
• White-Out Duodenal Mucosa: Clue to a Systemic Diagnosis
• Zebrafish mutants provide insights into Apolipoprotein B functions during embryonic development and pathological conditions