Abetalipoproteinemia Latest Advances

Find the Latest Research About Abetalipoproteinemia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 739 publications

Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.

Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.

Journal: Annals of internal medicine. Clinical cases

Published: August 19, 2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Journal: Clinical genetics

Published: May 19, 2026

Neuropathy-predominant and hyperkinetic-dystonic presentations in two siblings with a homozygous VPS13A variant: long-term follow-up and family-based clinical analysis.

Neuropathy-predominant and hyperkinetic-dystonic presentations in two siblings with a homozygous VPS13A variant: long-term follow-up and family-based clinical analysis.

Journal: BMC neurology

Published: May 05, 2026

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

Journal: Neurogenetics

Published: April 22, 2026

Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification.

Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification.

Journal: Frontiers in genetics

Published: January 20, 2026

Muscle MRI in a patient with chorea acanthocytosis.

Muscle MRI in a patient with chorea acanthocytosis.

Journal: Neuromuscular disorders : NMD

Published: January 02, 2026

A humanized mouse model of APOB deficiency recapitulates Hypobetalipoproteinemia.

A humanized mouse model of APOB deficiency recapitulates Hypobetalipoproteinemia.

Journal: Journal of lipid research

Published: October 16, 2025

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

Showing 1-12 of 739

Last Updated: 09/26/2026