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Last Updated: 10/31/2025
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Found 734 publications
Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.
Journal: American journal of hematology
Published: June 20, 2025
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.
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.
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.
Journal: Metabolites
Published: October 15, 2024
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.
Journal: Journal of lipid research
Published: September 30, 2024
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.
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.
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.
Journal: Frontiers in neuroscience
Published: March 27, 2024
Last Updated: 10/31/2025