Ayşe Çiğdem Aktuğlu Zeybek

Akademik Profiller

1. 1
   Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosisJournal of Clinical Lipidology
   2025
2. 2
   Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell PerspectivesJournal of Inherited Metabolic Disease
   2025
3. 3
   Exploring congenital sucrase‐isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing studyAutism Research
   2025
4. 4
   Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individualsMolecular Genetics and Metabolism
   2024
5. 5
   Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunctionJournal of Pharmaceutical and Biomedical Analysis
   2024
6. 6
   A Novel Homozygous <i>ACBD5</i> Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the LiteratureMolecular Syndromology
   2024
7. 7
   Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in TurkeyNutrients
   2024
8. 8
   Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorderMetabolic Brain Disease
   2023
9. 9
   A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase DeficiencyNutrients
   2023
10. 10
    An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management StrategiesTurkish Archives of Pediatrics
    2023

Yayın listesi ORCID kaydından alındı.