Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.

Atypical retinopathy as an important clue for abetalipoproteinemia diagnosis in a low-income setting.

Delayed Tricep Repair Using Dermal Allograft: Technique and Case Examples.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Binding of Selected Ligands to Human Protein Disulfide Isomerase and Microsomal Triglyceride Transfer Protein Complex and the Associated Conformational Changes: A Computational Molecular Modelling Study.

Syndromic retinitis pigmentosa.

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.

Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging.

High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Unique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications.

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years.

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia.

Unusual Presentation of Cow's Milk Protein Allergy.

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Low cholesterol states: clinical implications and management.

A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.

Marked Acanthocytosis Associated With Klipple Trenaunay Syndrom.

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

[Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].

Guidance for the diagnosis and treatment of hypolipidemia disorders.

[A case of primary ciliary dyskinesia and abetalipoproteinaemia].

Treatable Ataxias: How to Find the Needle in the Haystack?

Generation of hepatoma cell lines deficient in microsomal triglyceride transfer protein.

Molecular Mechanisms of Sphingolipid Transport on Plasma Lipoproteins.

Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions).

Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins.

Acanthocytosis in an alectinib-treated patient.

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

Zebrafish mutants provide insights into Apolipoprotein B functions during embryonic development and pathological conditions.

17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study.

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.

Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.

Hypotriglyceridemias/hypolipidemias.

Current Diagnosis and Management of Abetalipoproteinemia.

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?

Alectinib induces marked red cell spheroacanthocytosis in a near-ubiquitous fashion and is associated with reduced eosin-5-maleimide binding.

Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF).

New Classification and Management of Abetalipoproteinemia and Related Disorders.

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.

2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia.

Rare Diseases Related with Lipoprotein Metabolism.

Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases.

Vitamin-Responsive Movement Disorders in Children.

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia.

White-Out Duodenal Mucosa: Clue to a Systemic Diagnosis.

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism.

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

Two infants with abetalipoproteinemia: Classic versus atypical presentation.

Bruising as the first sign of exocrine pancreatic insufficiency in infancy.

Impaired Chylomicron Assembly Modifies Hepatic Metabolism Through Bile Acid-Dependent and Transmissible Microbial Adaptations.

Acanthocytosis causing chronic hemolysis in a patient with advanced cirrhosis.

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.

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.

Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy.

Acanthocytosis and brain damage in area postrema and choroid plexus: Description of novel signs of Loxosceles apachea envenomation in rats.

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.

Abetalipoproteinemia From Previously Unreported Gene Mutations.

A Thorny Finding: Unexpected Acanthocytosis in an Elderly Patient.

Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report.

Acanthocytosis in progressive childhood dystonia.

Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.

Laboratory investigations.

New pathogenic mutation of chorea-acanthocytosis.

Progress in the Diagnosis and Management of Chorea-acanthocytosis.

Complex genetic architecture in severe hypobetalipoproteinemia.

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.

Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress.

Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings.

A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.

Chylomicrons: Advances in biology, pathology, laboratory testing, and therapeutics.

HYPERGLYCAEMIC HEMIBALLISMUS: IMPLICATIONS FROM CONNECTIVITY ANALYSIS FOR COGNITIVE IMPAIRMENTS.

The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.

Hypolipidemia in a Special Operations Candidate: Case Report and Review of the Literature.

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Update on the molecular biology of dyslipidemias.

Finding the Therapeutic Sweet Spot: Using Naturally Occurring Human Variants to Inform Drug Design.

MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.

A Male Infant with Abetalipoproteinemia: A Case Report from Iran.

Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide.

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.

How low is too low: Statin induced hemolysis.

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia.

Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.