Abetalipoproteinemia Latest Advances

Find the Latest Research About Abetalipoproteinemia

Last Updated: 04/28/2026

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Found 733 publications

Genetic dyslipidemias.

Genetic dyslipidemias.

Journal: Annales d'endocrinologie

Published: March 22, 2026

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Journal: American journal of hematology

Published: June 20, 2025

Adipose microsomal triglyceride transfer protein deficiency protects against hepatic steatosis by upregulating PPARα activity.

Adipose microsomal triglyceride transfer protein deficiency protects against hepatic steatosis by upregulating PPARα activity.

Journal: JHEP reports : innovation in hepatology

Published: June 17, 2025

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.

Journal: Frontiers in neurology

Published: June 09, 2025

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

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

Journal: Journal of personalized medicine

Published: May 12, 2025

Correlation of Red Blood Cell Morphology with Serum Cobalamin and Folate Concentration in Dogs with Chronic Diarrhea: A Retrospective Study.

Correlation of Red Blood Cell Morphology with Serum Cobalamin and Folate Concentration in Dogs with Chronic Diarrhea: A Retrospective Study.

Journal: Metabolites

Published: October 15, 2024

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

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

Journal: Ophthalmic genetics

Published: October 07, 2024

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

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

Journal: Journal of lipid research

Published: September 30, 2024

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease.

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease.

Journal: Frontiers in neurology

Published: August 19, 2024

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

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

Journal: Journal of atherosclerosis and thrombosis

Published: May 15, 2024

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

Journal: Frontiers in neuroscience

Published: March 29, 2024

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

Journal: Frontiers in neuroscience

Published: March 27, 2024

Showing 1-12 of 733

Last Updated: 04/28/2026