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Last Updated: 03/06/2025

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Found 731 publications

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

Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.

Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 01, 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

Syndromic Retinitis Pigmentosa.

Syndromic Retinitis Pigmentosa.

Journal: Progress in retinal and eye research
Published: July 17, 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

Treatment of a lip defect in a patient with chorea-acanthocytosis using a combination of surgical and adjuvant onabotulinumtoxinA therapy: a case report.

Treatment of a lip defect in a patient with chorea-acanthocytosis using a combination of surgical and adjuvant onabotulinumtoxinA therapy: a case report.

Journal: Archives of craniofacial surgery
Published: February 23, 2024

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

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

Journal: Journal of clinical lipidology
Published: February 20, 2024

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.

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.

Journal: ChemistryOpen
Published: February 14, 2024
Showing 1-12 of 731

Last Updated: 03/06/2025