Ayse C. Zeybek-Aktuglu

Cerrahpasa, Turkey

Last Updated: 09/26/2026

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Found 30 publications

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Journal: Molecular genetics and metabolism

Published: May 19, 2026

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 18, 2025

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Journal: Molecular syndromology

Published: November 25, 2025

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Journal: Metabolic brain disease

Published: October 06, 2025

Children at the Apex of a Fraying Triangle: Disasters and Recent Policies Disrupting the Human-Nature-Animal Harmony.

Children at the Apex of a Fraying Triangle: Disasters and Recent Policies Disrupting the Human-Nature-Animal Harmony.

Journal: Turkish archives of pediatrics

Published: September 16, 2025

Early prediction of retinopathy of prematurity using targeted metabolomic profiling of 6-hydroxymethylpterin in preterm infants.

Early prediction of retinopathy of prematurity using targeted metabolomic profiling of 6-hydroxymethylpterin in preterm infants.

Journal: BMC ophthalmology

Published: July 14, 2025

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

Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives.

Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives.

Journal: Journal of inherited metabolic disease

Published: October 07, 2024

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

Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease

Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease

Journal: Balkan medical journal

Published: January 22, 2024

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.

Journal: Nutrients

Published: December 02, 2023

Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunction.

Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunction.

Journal: Journal of pharmaceutical and biomedical analysis

Published: November 24, 2023

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Last Updated: 09/26/2026