Abetalipoproteinemia Latest Advances

Find the Latest Research About Abetalipoproteinemia

Last Updated: 02/24/2026

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Found 735 publications

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

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

Journal: Neuromuscular disorders : NMD
Published: March 28, 2025

Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management.

Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management.

Journal: Cellular immunology
Published: February 05, 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
Showing 1-12 of 735

Last Updated: 02/24/2026