Abdurrahman O. Akgun

Elazig, Turkey

Last Updated: 09/26/2026

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Found 17 publications

Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study.

Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study.

Journal: Acta neurologica Belgica

Published: June 01, 2026

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Journal: Journal of clinical lipidology

Published: February 07, 2026

Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.

Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.

Journal: Annals of Indian Academy of Neurology

Published: July 10, 2025

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Journal: Journal of inherited metabolic disease

Published: April 04, 2025

A Clinical and Genetic Evaluation of Cases with Folate Receptor α Gene Mutation: A Case Series from Türkiye.

A Clinical and Genetic Evaluation of Cases with Folate Receptor α Gene Mutation: A Case Series from Türkiye.

Journal: Diagnostics (Basel, Switzerland)

Published: March 17, 2025

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Journal: Turkish journal of medical sciences

Published: May 23, 2024

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Journal: Molecular genetics and metabolism

Published: March 22, 2024

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.

Journal: Frontiers in public health

Published: November 08, 2022

The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes.

The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 26, 2022

All aspects of galactosemia: a single center experience.

All aspects of galactosemia: a single center experience.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 18, 2022

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 04, 2021

Children with Hashimoto’s Thyroiditis Have Increased Intestinal Permeability: Results of a Pilot Study

Children with Hashimoto’s Thyroiditis Have Increased Intestinal Permeability: Results of a Pilot Study

Journal: Journal of clinical research in pediatric endocrinology

Published: January 29, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026